ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)

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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 RCV003620714 SCV004409004 pathogenic Fanconi anemia complementation group E 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr417Serfs*7) 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 present in population databases (rs746340447, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with FANCE-related conditions (PMID: 29625052). This variant is also known as B:6:35427467:CAAA:-:hg19. For these reasons, this variant has been classified as Pathogenic.

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