ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1123del (p.Gln375fs)

dbSNP: rs2135930329
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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 RCV001875673 SCV002153504 pathogenic Gorlin syndrome; Medulloblastoma 2021-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SUFU-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln375Argfs*11) 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).
Ambry Genetics RCV002440974 SCV002751425 pathogenic Hereditary cancer-predisposing syndrome 2021-02-19 criteria provided, single submitter clinical testing The c.1123delC pathogenic mutation, located in coding exon 9 of the SUFU gene, results from a deletion of one nucleotide at nucleotide position 1123, causing a translational frameshift with a predicted alternate stop codon (p.Q375Rfs*11). 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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