ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1191T>C (p.Tyr397=)

gnomAD frequency: 0.00001  dbSNP: rs895235845
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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 RCV001487541 SCV001692031 likely benign Gorlin syndrome; Medulloblastoma 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341242 SCV002644079 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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.

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