ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys)

dbSNP: rs759567393
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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 RCV002008964 SCV002277418 uncertain significance CHARGE syndrome 2022-09-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 2805 of the CHD7 protein (p.Gly2805Cys). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1487954).

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