ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)

dbSNP: rs2488072943
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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 RCV003061055 SCV003456752 uncertain significance CHARGE syndrome 2022-06-26 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 2413 of the CHD7 protein (p.Arg2413Ile).

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