ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1807A>T (p.Thr603Ser)

dbSNP: rs753788366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002410091 SCV002713203 uncertain significance Cardiovascular phenotype 2020-12-17 criteria provided, single submitter clinical testing The p.T603S variant (also known as c.1807A>T), located in coding exon 13 of the VCL gene, results from an A to T substitution at nucleotide position 1807. The threonine at codon 603 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774512 SCV004622384 uncertain significance Dilated cardiomyopathy 1W 2024-06-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 603 of the VCL protein (p.Thr603Ser). This variant is present in population databases (rs753788366, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with VCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1780498). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV004779334 SCV005390714 uncertain significance not provided 2024-03-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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