ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)

gnomAD frequency: 0.00001  dbSNP: rs1590019047
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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 RCV000796473 SCV000935987 uncertain significance Gorlin syndrome; Medulloblastoma 2024-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 143 of the SUFU protein (p.Gly143Ser). 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: 642919). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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 RCV002332602 SCV002631760 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing The p.G143S variant (also known as c.427G>A), located in coding exon 3 of the SUFU gene, results from a G to A substitution at nucleotide position 427. The glycine at codon 143 is replaced by serine, an amino acid with similar 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 RCV003461087 SCV004205665 uncertain significance Familial meningioma 2023-10-23 criteria provided, single submitter clinical testing

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