ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala)

dbSNP: rs2144947148
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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 RCV001927247 SCV002164433 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-11-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 127 of the CACNA1A protein (p.Thr127Ala). 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 affected with CACNA1A-related conditions.

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