ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1446G>A (p.Pro482=)

gnomAD frequency: 0.00003  dbSNP: rs761389038
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628523 SCV000749425 likely benign Gorlin syndrome; Medulloblastoma 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011627 SCV001171971 likely benign Hereditary cancer-predisposing syndrome 2019-11-08 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 RCV003424198 SCV004127290 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004547773 SCV004785765 likely benign SUFU-related disorder 2021-10-15 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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