ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)

dbSNP: rs548487697
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Total submissions: 4
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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 RCV000156752 SCV000206473 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Glu525Asp variant in VCL gene has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the Glu525Asp var iant is uncertain.
Genetics and Genomics Program, Sidra Medicine RCV001293104 SCV001434088 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001481749 SCV001686097 likely benign Dilated cardiomyopathy 1W 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390369 SCV002703588 benign Cardiovascular phenotype 2022-08-09 criteria provided, single submitter clinical testing This alteration is classified as 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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