ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)

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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 RCV003522626 SCV004331749 pathogenic Fanconi anemia 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln722*) 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 not present in population databases (gnomAD no frequency). 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.

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