ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val)

dbSNP: rs2057732636
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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 RCV002050032 SCV002114182 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-04-28 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 880 of the CACNA1A protein (p.Ala880Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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