ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1077del (p.Glu359fs)

dbSNP: rs2135930082
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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 RCV001949296 SCV002240634 pathogenic Gorlin syndrome; Medulloblastoma 2023-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu359Aspfs*2) 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, 33024317). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with medulloblastoma (PMID: 24651015). ClinVar contains an entry for this variant (Variation ID: 1457629). For these reasons, this variant has been classified as Pathogenic.

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