ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp)

gnomAD frequency: 0.00006  dbSNP: rs183777537
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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 RCV001246285 SCV001419628 uncertain significance Fanconi anemia 2022-05-25 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 433 of the FANCG protein (p.Arg433Trp). This variant is present in population databases (rs183777537, gnomAD 0.02%). 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: 970675). 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.
Natera, Inc. RCV001835261 SCV002077444 uncertain significance Fanconi anemia complementation group G 2020-05-21 no assertion criteria provided clinical testing

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