ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp)

gnomAD frequency: 0.00001  dbSNP: rs372970430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525851 SCV000656759 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1273 of the CACNA1A protein (p.Arg1273Trp). This variant is present in population databases (rs372970430, gnomAD 0.0009%). This missense change has been observed in individual(s) with progressive ataxia (PMID: 27965395). ClinVar contains an entry for this variant (Variation ID: 476256). 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.

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