ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly)

gnomAD frequency: 0.00002  dbSNP: rs1371349116
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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 RCV001896644 SCV002177104 uncertain significance Fanconi anemia 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1076 of the FANCD2 protein (p.Ser1076Gly). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400313). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glycine 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.
Sema4, Sema4 RCV001896644 SCV002529511 uncertain significance Fanconi anemia 2022-02-24 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002478309 SCV002781290 uncertain significance Fanconi anemia complementation group D2 2022-04-30 criteria provided, single submitter clinical testing

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