ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.649_661del (p.Gln217fs)

dbSNP: rs1590062899
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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 RCV000797237 SCV000936786 pathogenic Gorlin syndrome; Medulloblastoma 2019-08-16 criteria provided, single submitter clinical testing 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln217Serfs*14) in the SUFU gene. It is expected to result in an absent or disrupted protein product.

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