ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)

gnomAD frequency: 0.00002  dbSNP: rs369405673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001952975 SCV002224594 uncertain significance Fanconi anemia 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1136 of the FANCD2 protein (p.Arg1136Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs369405673, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV002507655 SCV002814009 uncertain significance Fanconi anemia complementation group D2 2021-08-12 criteria provided, single submitter clinical testing

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