ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg)

gnomAD frequency: 0.00001  dbSNP: rs1587139402
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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 RCV000813675 SCV000954044 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 532 of the FANCG protein (p.Lys532Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001835974 SCV002085275 uncertain significance Fanconi anemia complementation group G 2020-02-26 no assertion criteria provided clinical testing

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