ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.1784G>A (p.Ser595Asn)

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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 RCV003089244 SCV003465570 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-05-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA2D2-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 595 of the CACNA2D2 protein (p.Ser595Asn). This variant is present in population databases (rs750915057, gnomAD 0.01%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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