ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)

dbSNP: rs2135597189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942253 SCV002228239 pathogenic Gorlin syndrome; Medulloblastoma 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly19Profs*83) 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: 29753700). ClinVar contains an entry for this variant (Variation ID: 1455211). For these reasons, this variant has been classified as Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV003447612 SCV004175426 pathogenic Medulloblastoma 2023-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681358 SCV005166102 pathogenic Hereditary cancer-predisposing syndrome 2024-04-05 criteria provided, single submitter clinical testing The c.37_53dup17 pathogenic mutation, located in coding exon 1 of the SUFU gene, results from a duplication of 17 nucleotides at nucleotide positions 37 to 53, causing a translational frameshift with a predicted alternate stop codon (p.G19Pfs*83). This variant has been observed in individuals with a personal and/or family history that is consistent with SUFU-related disorders (Waszak SM. Lancet Oncol. 2018 Jun;19(6):785-798; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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