ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003177384 SCV003863850 pathogenic Hereditary cancer-predisposing syndrome 2023-01-27 criteria provided, single submitter clinical testing The c.897_898ins44 variant, located in coding exon 7 of the SUFU gene, results from an insertion of 44 nucleotides at position 897, causing a translational frameshift with a predicted alternate stop codon (p.L300Rfs*28). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779559 SCV004610482 pathogenic Gorlin syndrome; Medulloblastoma 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu300Argfs*28) 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 variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 2452610). For these reasons, this variant has been classified as Pathogenic.

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