ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)

gnomAD frequency: 0.00016  dbSNP: rs200971205
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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 RCV000192337 SCV000247346 uncertain significance not specified 2015-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001371615 SCV001568186 uncertain significance Fanconi anemia 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 934 of the FANCD2 protein (p.Ser934Cys). This variant is present in population databases (rs200971205, gnomAD 0.02%). This missense change has been observed in individual(s) with ovarian cancer (PMID: 32546565). ClinVar contains an entry for this variant (Variation ID: 210980). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The cysteine 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 RCV001371615 SCV002529504 uncertain significance Fanconi anemia 2022-02-02 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002492877 SCV002785418 uncertain significance Fanconi anemia complementation group D2 2022-02-10 criteria provided, single submitter clinical testing

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