ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)

dbSNP: rs2141846369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560435 SCV001782848 uncertain significance not provided 2020-10-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002568400 SCV003254853 uncertain significance Developmental and epileptic encephalopathy 94 2022-03-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1196819). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. This variant has not been reported in the literature in individuals affected with CHD2-related conditions. This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 965 of the CHD2 protein (p.Lys965Ile). This variant is not present in population databases (gnomAD no frequency).

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