ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)

gnomAD frequency: 0.00041  dbSNP: rs202096200
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172195 SCV000051314 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040800 SCV000064491 uncertain significance not specified 2012-12-06 criteria provided, single submitter clinical testing The Val28555Leu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3720 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs202096200). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to fully assess its clinical sign ificance.
Invitae RCV001087420 SCV000765014 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172195 SCV000855084 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000172195 SCV000970831 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371845 SCV002667727 likely benign Cardiovascular phenotype 2020-02-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000172195 SCV003822272 uncertain significance not provided 2019-11-17 criteria provided, single submitter clinical testing

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