ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.846dup (p.Glu283fs)

dbSNP: rs1477199832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691871 SCV000819667 pathogenic Gorlin syndrome; Medulloblastoma 2018-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu283Argfs*3) in the SUFU gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with medulloblastoma (PMID: 21188540). Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002442446 SCV002680625 pathogenic Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The c.846dupC pathogenic mutation, located in coding exon 7 of the SUFU gene, results from a duplication of C at nucleotide position 846, causing a translational frameshift with a predicted alternate stop codon (p.E283Rfs*3). 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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