ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)

dbSNP: rs1590065940
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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 RCV001027333 SCV001189873 pathogenic Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing The p.W275* pathogenic mutation (also known as c.825G>A), located in coding exon 7 of the SUFU gene, results from a G to A substitution at nucleotide position 825. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. 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 RCV001238662 SCV001411487 pathogenic Gorlin syndrome; Medulloblastoma 2021-01-28 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. ClinVar contains an entry for this variant (Variation ID: 827539). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp275*) 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).

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