ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)

gnomAD frequency: 0.00001  dbSNP: rs779009338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798349 SCV000937962 uncertain significance Long QT syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 800 of the CACNA1C protein (p.Lys800Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs779009338, ExAC 0.02%). 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: 308138). 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: "Possibly 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 RCV003278756 SCV004005074 uncertain significance Cardiovascular phenotype 2023-04-06 criteria provided, single submitter clinical testing The p.K800Q variant (also known as c.2398A>C), located in coding exon 17 of the CACNA1C gene, results from an A to C substitution at nucleotide position 2398. The lysine at codon 800 is replaced by glutamine, 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. Based on the supporting evidence, the association of this alteration with CACNA1C-related neurodevelopmental disorder is unknown; however, the association of this alteration with CACNA1C-related long QT syndrome or Timothy syndrome is unlikely.

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