ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)

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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 RCV003066202 SCV003352998 pathogenic Gorlin syndrome; Medulloblastoma 2022-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr74*) in the SUFU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. For these reasons, this variant has been classified as Pathogenic.

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