ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)

dbSNP: rs1809007164
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214490 SCV001386173 uncertain significance CHARGE association 2019-08-13 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CHD7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 28 of the CHD7 protein (p.Gly28Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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