ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1973T>C (p.Val658Ala)

dbSNP: rs372691803
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156401 SCV000206119 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Val658Ala variant in VCL has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical s ignificance of the variant.
Genetics and Genomics Program, Sidra Medicine RCV001293164 SCV001434161 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001470512 SCV001674608 likely benign Dilated cardiomyopathy 1W 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001559741 SCV001782032 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26191084)
Ambry Genetics RCV002415675 SCV002721364 likely benign Cardiovascular phenotype 2020-07-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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