ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)

gnomAD frequency: 0.00004  dbSNP: rs1479681259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001874151 SCV002119430 uncertain significance Fanconi anemia 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 995 of the FANCD2 protein (p.Gly995Glu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. 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: "Tolerated"; 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 RCV002482457 SCV002782980 uncertain significance Fanconi anemia complementation group D2 2021-11-18 criteria provided, single submitter clinical testing

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