ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) (rs200441929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634442 SCV000755749 uncertain significance CHARGE association 2019-07-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1942 of the CHD7 protein (p.Arg1942Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs200441929, ExAC 0.006%). This variant has not been reported in the literature in individuals with CHD7-related disease. 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 C0"). 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.
Ambry Genetics RCV000719861 SCV000850732 uncertain significance History of neurodevelopmental disorder 2018-08-26 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729031 SCV000856665 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing

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