ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn)

gnomAD frequency: 0.00001  dbSNP: rs369638898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174691 SCV000226041 uncertain significance not provided 2014-11-18 criteria provided, single submitter clinical testing
Invitae RCV001304997 SCV001494306 uncertain significance Long QT syndrome 2023-05-10 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1C protein function. ClinVar contains an entry for this variant (Variation ID: 194342). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This variant is present in population databases (rs369638898, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 690 of the CACNA1C protein (p.Asp690Asn).
Fulgent Genetics, Fulgent Genetics RCV002478563 SCV002785205 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-13 criteria provided, single submitter clinical testing

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