ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys)

gnomAD frequency: 0.00001  dbSNP: rs1326606155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886924 SCV002166651 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 3 of the CACNA1A protein (p.Arg3Cys). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 1388953). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions.

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