ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)

gnomAD frequency: 0.00001  dbSNP: rs953871050
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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 RCV001996290 SCV002277965 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-02-03 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 not expected to disrupt CACNA1A protein function. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2179 of the CACNA1A protein (p.Gly2179Arg).
PreventionGenetics, part of Exact Sciences RCV003985538 SCV004105048 uncertain significance CACNA1A-related disorder 2023-07-16 criteria provided, single submitter clinical testing The CACNA1A c.6532G>A variant is predicted to result in the amino acid substitution p.Gly2178Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-13319818-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV004763302 SCV005371923 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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