ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)

gnomAD frequency: 0.00003  dbSNP: rs781175970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204923 SCV001376154 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 776 of the FANCI protein (p.Met776Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs781175970, ExAC 0.006%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002484110 SCV002790885 uncertain significance Fanconi anemia complementation group I 2022-03-31 criteria provided, single submitter clinical testing

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