ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2977A>G (p.Met993Val)

dbSNP: rs2053978485
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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 RCV001057524 SCV001222022 uncertain significance Developmental and epileptic encephalopathy 94 2019-05-27 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CHD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 993 of the CHD2 protein (p.Met993Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.

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