ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)

dbSNP: rs1600292507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793441 SCV000932793 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-05-04 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of CACNA1A-related conditions (PMID: 32238909). It is also known as p.Ala628Val in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 629 of the CACNA1A protein (p.Ala629Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001031011 SCV001160804 likely pathogenic Developmental and epileptic encephalopathy, 42 2019-12-11 criteria provided, single submitter research ACMG evidence PS2, PM2, PP2, PP3

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