ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.124dup (p.Arg42fs)

dbSNP: rs2062292476
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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 RCV001064195 SCV001229078 pathogenic Gorlin syndrome; Medulloblastoma 2020-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg42Profs*6) in the SUFU gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is not present in population databases (ExAC no frequency).

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