ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.666G>T (p.Leu222=)

gnomAD frequency: 0.00003  dbSNP: rs142383792
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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 RCV000540739 SCV000623120 likely benign Gorlin syndrome; Medulloblastoma 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025517 SCV001187719 likely benign Hereditary cancer-predisposing syndrome 2018-07-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736802 SCV004562467 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing

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