ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp)

gnomAD frequency: 0.00022  dbSNP: rs201884798
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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 RCV000467399 SCV000547705 uncertain significance Fanconi anemia 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 485 of the FANCG protein (p.Arg485Trp). This variant is present in population databases (rs201884798, gnomAD 0.1%). 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: 408143). 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 tryptophan 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.
Fulgent Genetics, Fulgent Genetics RCV001828466 SCV002790315 uncertain significance Fanconi anemia complementation group G 2021-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828466 SCV002085280 uncertain significance Fanconi anemia complementation group G 2019-10-28 no assertion criteria provided clinical testing

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