ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1089G>A (p.Thr363=)

gnomAD frequency: 0.00001  dbSNP: rs1438357532
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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 RCV001009880 SCV001170005 likely benign Hereditary cancer-predisposing syndrome 2019-09-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068812 SCV002372619 likely benign Gorlin syndrome; Medulloblastoma 2023-12-02 criteria provided, single submitter clinical testing

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