ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)

gnomAD frequency: 0.00003  dbSNP: rs555539811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535262 SCV000626477 uncertain significance Fanconi anemia 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1325 of the FANCD2 protein (p.Leu1325Met). This variant is present in population databases (rs555539811, 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: 456358). 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.
Sema4, Sema4 RCV000535262 SCV002529526 uncertain significance Fanconi anemia 2021-04-14 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002506293 SCV002815535 uncertain significance Fanconi anemia complementation group D2 2021-11-29 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153680 SCV003843775 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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