ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)

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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 RCV003830599 SCV004632093 pathogenic Fanconi anemia 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr716Aspfs*31) 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 (rs747469438, gnomAD 0.0009%). 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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