ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.849G>A (p.Glu283=)

gnomAD frequency: 0.00001  dbSNP: rs751057597
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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 RCV000628511 SCV000749413 likely benign Gorlin syndrome; Medulloblastoma 2023-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448922 SCV002678990 likely benign Hereditary cancer-predisposing syndrome 2022-09-23 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.
CeGaT Center for Human Genetics Tuebingen RCV003424196 SCV004127285 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7

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