ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser)

gnomAD frequency: 0.00047  dbSNP: rs139608070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621890 SCV000735428 likely benign Cardiovascular phenotype 2022-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638659 SCV000760198 uncertain significance Brugada syndrome 2024-11-11 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 923 of the CACNA2D1 protein (p.Thr923Ser). This variant is present in population databases (rs139608070, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 518537). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001700258 SCV005409266 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing BP4, PP2
Clinical Genetics, Academic Medical Center RCV001700258 SCV001921169 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700258 SCV001953046 likely benign not provided no assertion criteria provided clinical testing

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