ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1798A>C (p.Ser600Arg) (rs397517236)

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Total submissions: 4
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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 RCV000172505 SCV000054749 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038807 SCV000062485 uncertain significance not specified 2010-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000172505 SCV000236495 uncertain significance not provided 2013-07-12 criteria provided, single submitter clinical testing p.Ser600Arg (AGC>CGC): c.1798 A>C in exon 13 of the VCL gene (NM_014000.2). The Ser600Arg variant in the VCL gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ser600Arg results in a semi-conservative amino acid substitution of a neutral, polar Serine to a positively-charged Arginine at a position that is highly conserved across species. In silico analysis predicts Ser600Arg is damaging to the protein structure/function. The Ser600Arg variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, very few missense mutations in the VCL gene have been reported, and none of these reported mutations are near Ser600Arg, indicating this region of the protein may tolerate change.With the clinical and molecular information available at this time, we cannot definitively determine if Ser600Arg is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769113 SCV000900486 uncertain significance Cardiomyopathy 2016-04-22 criteria provided, single submitter clinical testing

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