ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.769C>T (p.Arg257Cys)

gnomAD frequency: 0.00005  dbSNP: rs759314410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788965 SCV002030208 uncertain significance Fanconi anemia complementation group G 2021-01-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002258311 SCV002537558 uncertain significance Fanconi anemia 2021-06-18 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001788965 SCV002782680 uncertain significance Fanconi anemia complementation group G 2021-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002258311 SCV003783687 uncertain significance Fanconi anemia 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 257 of the FANCG protein (p.Arg257Cys). This variant is present in population databases (rs759314410, gnomAD 0.03%). 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: 1327085). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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