ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1188A>C (p.Thr396=)

gnomAD frequency: 0.00001  dbSNP: rs1418070936
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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 RCV000869125 SCV001010526 likely benign Gorlin syndrome; Medulloblastoma 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336804 SCV002634793 likely benign Hereditary cancer-predisposing syndrome 2022-04-22 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 RCV004549956 SCV004784871 likely benign SUFU-related disorder 2022-03-08 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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