ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)

gnomAD frequency: 0.00002  dbSNP: rs771869385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001615393 SCV001832588 uncertain significance Fanconi anemia criteria provided, single submitter clinical testing
Invitae RCV001615393 SCV002239412 pathogenic Fanconi anemia 2020-11-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCD2-related conditions. This variant is present in population databases (rs771869385, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Arg408*) 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).
Revvity Omics, Revvity RCV003146223 SCV003832823 likely pathogenic Fanconi anemia complementation group D2 2021-12-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003146223 SCV004196706 pathogenic Fanconi anemia complementation group D2 2023-10-31 criteria provided, single submitter clinical testing

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