ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.905G>T (p.Ser302Ile)

gnomAD frequency: 0.00001  dbSNP: rs61757386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500517 SCV000594709 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865605 SCV002295879 uncertain significance Fanconi anemia 2022-04-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 302 of the FANCG protein (p.Ser302Ile). This variant is present in population databases (rs61757386, gnomAD 0.01%). 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: 435154). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002481613 SCV002791531 uncertain significance Fanconi anemia complementation group G 2021-11-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV002481613 SCV004199149 uncertain significance Fanconi anemia complementation group G 2023-06-07 criteria provided, single submitter clinical testing

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