ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.1726A>G (p.Thr576Ala)

gnomAD frequency: 0.00001  dbSNP: rs1704965054
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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 RCV001051050 SCV001215183 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-05-26 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 CACNA2D2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 576 of the CACNA2D2 protein (p.Thr576Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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