ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)

dbSNP: rs147205530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692360 SCV000820178 uncertain significance Fanconi anemia 2022-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1321 of the FANCD2 protein (p.Arg1321Pro). This variant is present in population databases (rs147205530, gnomAD 0.1%). 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: 571261). 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: "Probably 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000692360 SCV001449039 uncertain significance Fanconi anemia 2019-11-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000692360 SCV002529524 uncertain significance Fanconi anemia 2021-06-13 criteria provided, single submitter curation
GeneDx RCV002293472 SCV002586725 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002485653 SCV002788079 uncertain significance Fanconi anemia complementation group D2 2022-03-08 criteria provided, single submitter clinical testing

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