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NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 7, 2022
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:
RCV003162208.3

Allele description [Variation Report for NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)]

NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)

Genes:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
LOC110121486:VISTA enhancer hs2143 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
HGVS:
  • NC_000010.11:g.86687218C>T
  • NG_008876.1:g.23655C>T
  • NG_054099.1:g.3247C>T
  • NM_001080114.2:c.494C>T
  • NM_001080115.2:c.690-4678C>T
  • NM_001080116.1:c.494C>T
  • NM_001171610.2:c.839C>T
  • NM_001171611.2:c.839C>T
  • NM_001368063.1:c.690-4678C>T
  • NM_001368064.1:c.690-4678C>T
  • NM_001368065.1:c.690-4678C>T
  • NM_001368066.1:c.494C>T
  • NM_001368067.1:c.494C>T
  • NM_001368068.1:c.494C>T
  • NM_007078.3:c.690-4678C>TMANE SELECT
  • NP_001073583.1:p.Ala165Val
  • NP_001073585.1:p.Ala165Val
  • NP_001165081.1:p.Ala280Val
  • NP_001165082.1:p.Ala280Val
  • NP_001354995.1:p.Ala165Val
  • NP_001354996.1:p.Ala165Val
  • NP_001354997.1:p.Ala165Val
  • LRG_385t1:c.690-4678C>T
  • LRG_385t2:c.494C>T
  • LRG_385:g.23655C>T
  • LRG_385p2:p.Ala165Val
  • NC_000010.10:g.88446975C>T
  • NM_001080114.1:c.494C>T
  • NM_007078.2:c.690-4678C>T
  • c.494C>T
Protein change:
A165V; ALA165VAL
Links:
OMIM: 605906.0002; dbSNP: rs121908334
NCBI 1000 Genomes Browser:
rs121908334
Molecular consequence:
  • NM_001080115.2:c.690-4678C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368063.1:c.690-4678C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368064.1:c.690-4678C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368065.1:c.690-4678C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007078.3:c.690-4678C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080114.2:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.839C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003861769Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 7, 2022) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in ZASP define a novel form of muscular dystrophy in humans.

Selcen D, Engel AG.

Ann Neurol. 2005 Feb;57(2):269-76.

PubMed [citation]
PMID:
15668942

Zaspopathy in a large classic late-onset distal myopathy family.

Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B.

Brain. 2007 Jun;130(Pt 6):1477-84. Epub 2007 Mar 2.

PubMed [citation]
PMID:
17337483
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV003861769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

The c.690-4678C>T intronic pathogenic mutation results from a C to T substitution 4678 nucleotides upstream from coding exon 5 in the LDB3 gene. This alteration, also known as c.494C>T p.A165V in isoform NM_001080116, has been detected in multiple individuals with myofibrillar myopathy and has been reported to segregate with disease (Selcen D et al. Ann. Neurol., 2005 Feb;57:269-76; Griggs R et al. Brain, 2007 Jun;130:1477-84; Olivé M et al. Neuromuscul. Disord., 2011 Aug;21:533-42; Semmler AL et al. Orphanet J Rare Dis, 2014 Aug;9:121; Vincent AE et al. Neuromuscul. Disord., 2016 10;26:691-701). Haplotype analysis has demonstrated that this variant is a European founder mutation (Griggs R et al. Brain, 2007 Jun;130:1477-84). Functional analyses indicate that this alteration may impact protein function, but the physiological relevance of the observed impacts is unclear (Lin X et al. J. Biol. Chem., 2014 May;289:13615-26). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 22, 2024