ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.931dup (p.Val311fs)

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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 RCV003621062 SCV004434376 pathogenic Fanconi anemia complementation group E 2023-02-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val311Glyfs*2) 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 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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