ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.338G>A (p.Arg113Lys)

gnomAD frequency: 0.00001  dbSNP: rs778894219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630930 SCV000751905 uncertain significance Fanconi anemia 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 113 of the FANCG protein (p.Arg113Lys). This variant is present in population databases (rs778894219, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 526405). 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 lysine 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691961 SCV005196358 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001835886 SCV002077477 uncertain significance Fanconi anemia complementation group G 2020-08-03 no assertion criteria provided clinical testing

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