ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)

dbSNP: rs1487599100
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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 RCV001231208 SCV001403720 uncertain significance Gorlin syndrome; Medulloblastoma 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 293 of the SUFU protein (p.Ile293Asn). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SUFU-related conditions. ClinVar contains an entry for this variant (Variation ID: 958104). 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%. 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.
Ambry Genetics RCV004033120 SCV005027154 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-09 criteria provided, single submitter clinical testing The p.I293N variant (also known as c.878T>A), located in coding exon 7 of the SUFU gene, results from a T to A substitution at nucleotide position 878. The isoleucine at codon 293 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570573 SCV005052914 uncertain significance Familial meningioma 2024-01-30 criteria provided, single submitter clinical testing

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