ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)

dbSNP: rs2057721231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893136 SCV002164321 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-12-02 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 999 of the CACNA1A protein (p.Gly999Glu).
Fulgent Genetics, Fulgent Genetics RCV002506971 SCV002816680 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-05-18 criteria provided, single submitter clinical testing

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