ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)

gnomAD frequency: 0.00001  dbSNP: rs151267266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218676 SCV001390569 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 960 of the FANCI protein (p.Arg960Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs151267266, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-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: "Tolerated"; 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 RCV002484186 SCV002793090 uncertain significance Fanconi anemia complementation group I 2022-05-05 criteria provided, single submitter clinical testing

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