ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu)

gnomAD frequency: 0.00001  dbSNP: rs772938422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321187 SCV001512006 uncertain significance Brugada syndrome 2023-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 773 of the CACNA2D1 protein (p.Pro773Leu). This variant is present in population databases (rs772938422, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 1021425). 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 tolerated. 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 RCV003284190 SCV004004433 uncertain significance Cardiovascular phenotype 2023-05-28 criteria provided, single submitter clinical testing The p.P773L variant (also known as c.2318C>T), located in coding exon 29 of the CACNA2D1 gene, results from a C to T substitution at nucleotide position 2318. The proline at codon 773 is replaced by leucine, 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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