ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.565G>A (p.Val189Met)

dbSNP: rs151045204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208407 SCV000264314 uncertain significance Long QT syndrome 2015-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853319 SCV002296308 uncertain significance Dilated cardiomyopathy 1W 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347816 SCV002652378 uncertain significance Cardiovascular phenotype 2022-06-02 criteria provided, single submitter clinical testing The p.V189M variant (also known as c.565G>A), located in coding exon 5 of the VCL gene, results from a G to A substitution at nucleotide position 565. The valine at codon 189 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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