ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.480T>C (p.His160=)

gnomAD frequency: 0.00001  dbSNP: rs1308247295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506894 SCV001711832 likely benign Gorlin syndrome; Medulloblastoma 2023-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329645 SCV002633974 likely benign Hereditary cancer-predisposing syndrome 2019-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004550272 SCV004761723 likely benign SUFU-related disorder 2022-04-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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