ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)

gnomAD frequency: 0.00002  dbSNP: rs753196787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414678 SCV000492261 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The Q829R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q829R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q829R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861436 SCV002147705 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-29 criteria provided, single submitter clinical testing

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