ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.557T>C (p.Val186Ala)

gnomAD frequency: 0.00001  dbSNP: rs760795656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316480 SCV001507104 uncertain significance Developmental and epileptic encephalopathy 94 2020-02-24 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with CHD2-related disease. This variant is present in population databases (rs760795656, ExAC 0.003%). This sequence change replaces valine with alanine at codon 186 of the CHD2 protein (p.Val186Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
GenomeConnect - Invitae Patient Insights Network RCV001316480 SCV001749330 not provided Developmental and epileptic encephalopathy 94 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-16-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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