ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)

dbSNP: rs200466062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300972 SCV001490127 uncertain significance Fanconi anemia 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with methionine at codon 573 of the FANCG protein (p.Arg573Met). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and methionine. This variant is present in population databases (rs200466062, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with FANCG-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: "Deleterious"; 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.
GeneDx RCV003442830 SCV004168571 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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