ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg)

gnomAD frequency: 0.00001  dbSNP: rs527593196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516858 SCV000612520 uncertain significance not specified 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV001203503 SCV001374671 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 946 of the CACNA1A protein (p.Gly946Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 446912). 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. 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.
GeneDx RCV001731742 SCV001982437 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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