ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)

gnomAD frequency: 0.00011  dbSNP: rs368020224
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568227 SCV000675288 likely benign Hereditary cancer-predisposing syndrome 2022-12-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000705071 SCV000834051 uncertain significance Gorlin syndrome; Medulloblastoma 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 411 of the SUFU protein (p.Thr411Met). This variant is present in population databases (rs368020224, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of SUFU-related conditions (PMID: 23826113). ClinVar contains an entry for this variant (Variation ID: 486528). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SUFU protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change does not substantially affect SUFU function (PMID: 23826113). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000763643 SCV000894514 uncertain significance Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459402 SCV004205685 uncertain significance Familial meningioma 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV004783816 SCV005395970 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Published functional study demonstrates luciferase reporter activity comparable to wild-type (PMID: 23826113); This variant is associated with the following publications: (PMID: 12426310, 23826113, 26184317)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005231110 SCV005872564 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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