ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1018del (p.Ala340fs)

dbSNP: rs2135889203
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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 RCV001381256 SCV001579577 pathogenic Gorlin syndrome; Medulloblastoma 2023-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala340Profs*21) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069396). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV003169944 SCV003855080 pathogenic Hereditary cancer-predisposing syndrome 2023-03-15 criteria provided, single submitter clinical testing The c.1018delG pathogenic mutation, located in coding exon 8 of the SUFU gene, results from a deletion of one nucleotide at nucleotide position 1018, causing a translational frameshift with a predicted alternate stop codon (p.A340Pfs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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