ClinVar Miner

Submissions for variant NM_001127221.2(CACNA1A):c.5620G>A (p.Ala1874Thr)

dbSNP: rs2055560379
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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 RCV001242226 SCV001415297 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-03-07 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 threonine at codon 1874 of the CACNA1A protein (p.Ala1874Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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