ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser)

dbSNP: rs767830108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977254 SCV002262986 uncertain significance Fanconi anemia 2021-02-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 498 of the FANCI protein (p.Arg498Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCI-related conditions. This variant is present in population databases (rs767830108, ExAC 0.02%).

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