ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.757G>A (p.Val253Ile)

dbSNP: rs2053388088
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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 RCV001321906 SCV001512757 uncertain significance Developmental and epileptic encephalopathy 94 2020-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 253 of the CHD2 protein (p.Val253Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHD2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHD2 protein function. 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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