ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn)

dbSNP: rs864622150
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206559 SCV000259471 uncertain significance CHARGE association 2015-07-18 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant has not been published in the literature and is not present in population databases. This sequence change replaces aspartic acid with asparagine at codon 1279 of the CHD7 protein (p.Asp1279Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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