VCV000424832.2 - ClinVar

NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Likely pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This genotype includes the following variants

NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]

Other names: -
Functional consequence: -
Links: -

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TTN		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	12026	32050
TTN-AS1	-	-	-	GRCh38	-	18375

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Congenital muscular dystrophy	Likely pathogenic (1)	criteria provided, single submitter	Dec 1, 2015	RCV000231033.3

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Dec 01, 2015)	criteria provided, single submitter (Punetha et al. (J Neuromuscul Dis. 2016)) Method: research	Congenital muscular dystrophy Affected status: yes Allele origin: unknown	Center for Genetic Medicine Research, Children's National Medical Center Accession: SCV000265780.3 First in ClinVar: Jul 01, 2016 Last updated: Jul 01, 2016	Publications: PubMed (1) PubMed: 27854218

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).	Savarese M	Journal of neuromuscular diseases	2020	PMID: 32597815
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.	Khera AV	Journal of the American College of Cardiology	2019	PMID: 31727422
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.	Punetha J	Journal of neuromuscular diseases	2016	PMID: 27854218
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.	Punetha J	Journal of neuromuscular diseases	2016	PMID: 27854218
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.	O'Grady GL	Annals of neurology	2016	PMID: 27159402
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S	Genetics in medicine : official journal of the American College of Medical Genetics	2015	PMID: 25741868
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.	Roberts AM	Science translational medicine	2015	PMID: 25589632
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.	Ceyhan-Birsoy O	Neurology	2013	PMID: 23975875

Text-mined citations for this variant ...

Record last updated Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]

Variant Details

NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...