ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)

gnomAD frequency: 0.00001  dbSNP: rs200206894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866923 SCV002119940 uncertain significance Long QT syndrome 2022-07-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1461 of the CACNA1C protein (p.Met1461Val). This variant is present in population databases (rs200206894, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355444). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002331358 SCV002629066 uncertain significance Cardiovascular phenotype 2018-07-11 criteria provided, single submitter clinical testing The p.M1461V variant (also known as c.4381A>G), located in coding exon 35 of the CACNA1C gene, results from an A to G substitution at nucleotide position 4381. The methionine at codon 1461 is replaced by valine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV002503385 SCV002784603 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-23 criteria provided, single submitter clinical testing

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