ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)

gnomAD frequency: 0.00001  dbSNP: rs1398046806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326740 SCV001517785 uncertain significance Fanconi anemia 2022-06-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 784 of the FANCD2 protein (p.Ser784Phe). 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: 1026310). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002504513 SCV002816582 uncertain significance Fanconi anemia complementation group D2 2021-11-11 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153994 SCV003843799 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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