ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)

dbSNP: rs1555751762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653321 SCV000775200 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-16 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 expected to disrupt CACNA1A protein function. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 542820). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1264 of the CACNA1A protein (p.Glu1264Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CACNA1A-related disorders (PMID: 26633542, 28444220, 33233562; Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as c.3787G>A:p.E1263K.
GeneDx RCV004702253 SCV005202131 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26633542, 33233562, 28444220)

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