ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)

gnomAD frequency: 0.00002  dbSNP: rs141532626
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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 RCV000628508 SCV000749410 uncertain significance Gorlin syndrome; Medulloblastoma 2024-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 75 of the SUFU protein (p.Arg75Ser). This variant is not present in population databases (gnomAD no frequency). 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: 524664). 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 RCV001014963 SCV001175740 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-06 criteria provided, single submitter clinical testing The p.R75S variant (also known as c.225G>T), located in coding exon 2 of the SUFU gene, results from a G to T substitution at nucleotide position 225. The arginine at codon 75 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568352 SCV005052929 uncertain significance Familial meningioma 2023-11-10 criteria provided, single submitter clinical testing

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