ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.235dup (p.Leu79fs)

dbSNP: rs2124974621
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939570 SCV002227777 pathogenic Fanconi anemia 2021-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu79Profs*20) 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).

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