ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)

gnomAD frequency: 0.00001  dbSNP: rs369022159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727234 SCV001962466 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001727234 SCV002069136 pathogenic not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV002032693 SCV002184532 pathogenic Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1161*) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs369022159, gnomAD 0.004%). 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: 1298904). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464125 SCV004196721 likely pathogenic Fanconi anemia complementation group D2 2023-10-05 criteria provided, single submitter clinical testing

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