ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)

gnomAD frequency: 0.00039  dbSNP: rs36049457
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462856 SCV000544979 likely benign Gorlin syndrome; Medulloblastoma 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570457 SCV000675283 likely benign Hereditary cancer-predisposing syndrome 2020-11-13 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.
GeneDx RCV001799621 SCV002043994 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with ependymoma, leukemia, or autism spectrum disorder (Zhang et al., 2015; Darbro et al., 2016); Published functional studies demonstrate that SUFU Arg362Cys prevents binding of RUSC2 or Gli3 proteins compared to wild-type (Jin et al., 2016); This variant is associated with the following publications: (PMID: 24728327, 27974047, 26934580, 27633991, 26580448)
Sema4, Sema4 RCV000570457 SCV002527188 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001799621 SCV004221299 benign not provided 2022-11-17 criteria provided, single submitter clinical testing
ITMI RCV000122099 SCV000086314 not provided not specified 2013-09-19 no assertion provided reference population

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