ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2810A>C (p.His937Pro)

dbSNP: rs2053946385
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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 RCV001041877 SCV001205527 uncertain significance Developmental and epileptic encephalopathy 94 2019-12-15 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. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces histidine with proline at codon 937 of the CHD2 protein (p.His937Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline.

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