ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1626C>T (p.Leu542=)

gnomAD frequency: 0.00031  dbSNP: rs150402791
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Total submissions: 6
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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 RCV000038801 SCV000062479 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu542Leu in Exon 12 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs150402791).
GeneDx RCV000038801 SCV000169799 benign not specified 2014-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081580 SCV000645845 likely benign Dilated cardiomyopathy 1W 2024-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756898 SCV000884870 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399381 SCV002706872 likely benign Cardiovascular phenotype 2016-11-25 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.
Fulgent Genetics, Fulgent Genetics RCV002504902 SCV002807651 likely benign Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2021-11-10 criteria provided, single submitter clinical testing

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