ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1009del (p.His337fs)

dbSNP: rs869300423
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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 RCV001230739 SCV001403229 pathogenic Gorlin syndrome; Medulloblastoma 2019-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His337Thrfs*24) in the SUFU gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SUFU-related conditions. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). For these reasons, this variant has been classified as Pathogenic.

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