NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 16, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003298069.1

Allele description [Variation Report for NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)]

NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)

Gene:

CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)

HGVS:

NC_000011.10:g.19182720T>C
NG_011932.2:g.32854A>G
NM_001369404.1:c.366A>G
NM_003476.5:c.535A>GMANE SELECT
NP_001356333.1:p.Pro122=
NP_003467.1:p.Thr179Ala
LRG_440t1:c.535A>G
LRG_440:g.32854A>G
NC_000011.9:g.19204267T>C
NM_003476.3:c.535A>G
NM_003476.4:c.535A>G
c.535A>G

Protein change:

T179A

Links:

dbSNP: rs397516859

NCBI 1000 Genomes Browser:

rs397516859

Molecular consequence:

NM_003476.5:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369404.1:c.366A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003993233	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (May 16, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24503780, 30847666, 31983221 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003993233

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(May 16, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]

PMID:: 24503780

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]

PMID:: 30847666
PMCID:: PMC6533346

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV003993233.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.T179A variant (also known as c.535A>G), located in coding exon 5 of the CSRP3 gene, results from an A to G substitution at nucleotide position 535. The threonine at codon 179 is replaced by alanine, an amino acid with similar properties. This alteration has been detected in a dilated cardiomyopathy cohort (Pugh TJ et al. Genet. Med., 2014 Aug;16:601-8; Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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