ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.538del (p.Ile180fs)

dbSNP: rs2139106358
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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 RCV001384435 SCV001583932 pathogenic Fanconi anemia 2021-01-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCM-related conditions. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ile180Tyrfs*16) in the FANCM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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