Submissions for variant NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)

gnomAD frequency: 0.00006  dbSNP: rs148160011

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458074	SCV000544970	likely benign	Gorlin syndrome; Medulloblastoma	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019093	SCV001180407	likely benign	Hereditary cancer-predisposing syndrome	2023-07-05	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.
Baylor Genetics	RCV003463871	SCV004205677	uncertain significance	Familial meningioma	2024-03-17	criteria provided, single submitter	clinical testing
GeneDx	RCV004591295	SCV005079655	uncertain significance	not provided	2023-09-20	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function