ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.313C>T (p.Arg105Ter) (rs397517239)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038823 SCV000062501 uncertain significance not specified 2018-01-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg105X v ariant in VCL has not been identified in individuals with cardiomyopathy, but ha s been identified in 3/246076 total chromosomes by the Genome Aggregation Databa se (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs397517239). This nonsense variant leads to a premature termination codon at position 105, which is predict ed to lead to a truncated or absent protein. Animal models have shown that loss of function (LOF) of the VCL gene can impact cardiac function resulting in pheno types ranging from arrhythmia to cardiomyopathy (Zemljic-Harpf 2004; Zemljic-Har pf 2007). In summary, while there is some suspicion that LOF variants may contri bute to cardiomyopathy, the clinical significance of the p.Arg105X variant is un certain. ACMG/AMP Criteria applied: PVS1_Moderate; PM2.

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