ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)

dbSNP: rs886037946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV002227402 SCV002506525 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774680 SCV004571414 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1508 of the CACNA1A protein (p.Ala1508Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CACNA1A-related conditions (PMID: 35722745). In at least one individual the variant was observed to be de novo. This variant is also known as c.4519G>A, p.A1507T. ClinVar contains an entry for this variant (Variation ID: 1679523). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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