ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)

dbSNP: rs779292782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195943 SCV001366367 uncertain significance Migraine, familial hemiplegic, 1 2019-01-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Invitae RCV002560212 SCV003281885 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-10-03 criteria provided, single submitter clinical testing 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 not expected to disrupt CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 930351). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs779292782, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1302 of the CACNA1A protein (p.Val1302Ile).
GeneDx RCV003313187 SCV004012629 uncertain significance not provided 2023-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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