ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) (rs369058619)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765231 SCV000896467 uncertain significance Fanconi anemia, complementation group I 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000476737 SCV000547812 uncertain significance Fanconi anemia 2017-05-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1316 of the FANCI protein (p.Gly1316Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs369058619, ExAC 0.01%) but has not been reported in the literature in individuals with a FANCI-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The arginine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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