ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.83C>T (p.Ser28Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434899 SCV002677940 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-25 criteria provided, single submitter clinical testing The p.S28L variant (also known as c.83C>T), located in coding exon 1 of the SUFU gene, results from a C to T substitution at nucleotide position 83. The serine at codon 28 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572385 SCV005052928 uncertain significance Familial meningioma 2023-11-18 criteria provided, single submitter clinical testing

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