ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg)

gnomAD frequency: 0.00004  dbSNP: rs912988587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228428 SCV001400828 uncertain significance CHARGE association 2021-07-22 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CHD7-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 2882 of the CHD7 protein (p.Gly2882Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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