ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.4_13del (p.Ala2fs)

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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 RCV003620537 SCV004395409 pathogenic Fanconi anemia complementation group E 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2Thrfs*79) in the FANCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. For these reasons, this variant has been classified as Pathogenic.

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