ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705220 SCV000834207 uncertain significance Fanconi anemia 2018-06-12 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 473 of the FANCI protein (p.Val473Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs200007225, ExAC 0.05%). This variant has not been reported in the literature in individuals with FANCI-related disease. 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.

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