ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln)

dbSNP: rs1060503186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468988 SCV000552233 uncertain significance CHARGE association 2016-12-12 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function and splicing. 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 alter RNA splicing, 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CHD7-related disease. This sequence change replaces arginine with glutamine at codon 1330 of the CHD7 protein (p.Arg1330Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. It also falls at the last nucleotide of exon 16 of the CHD7 coding sequence.

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