ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1019C>T (p.Ala340Val)

gnomAD frequency: 0.00002  dbSNP: rs374928228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170937 SCV001333588 uncertain significance Cardiomyopathy 2022-10-07 criteria provided, single submitter clinical testing
Invitae RCV001324561 SCV001515518 uncertain significance Dilated cardiomyopathy 1W 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365822 SCV002659532 uncertain significance Cardiovascular phenotype 2022-08-24 criteria provided, single submitter clinical testing The p.A340V variant (also known as c.1019C>T), located in coding exon 8 of the VCL gene, results from a C to T substitution at nucleotide position 1019. The alanine at codon 340 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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