ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)

dbSNP: rs754294941
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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 RCV001171116 SCV001333796 uncertain significance Cardiomyopathy 2018-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445408 SCV002733706 uncertain significance Cardiovascular phenotype 2022-01-12 criteria provided, single submitter clinical testing The p.A803T variant (also known as c.2407G>A), located in coding exon 16 of the VCL gene, results from a G to A substitution at nucleotide position 2407. The alanine at codon 803 is replaced by threonine, 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.
Fulgent Genetics, Fulgent Genetics RCV002483931 SCV002787912 uncertain significance Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2021-08-19 criteria provided, single submitter clinical testing

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