ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.73C>G (p.Arg25Gly)

gnomAD frequency: 0.00001  dbSNP: rs752839554
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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 RCV001870901 SCV002132550 uncertain significance Fanconi anemia 2021-02-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 25 of the FANCG protein (p.Arg25Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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. 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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