ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003034307 SCV003330107 uncertain significance Gorlin syndrome; Medulloblastoma 2022-05-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 116 of the SUFU protein (p.Phe116Cys).
Ambry Genetics RCV004673772 SCV005166114 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-17 criteria provided, single submitter clinical testing The p.F116C variant (also known as c.347T>G), located in coding exon 3 of the SUFU gene, results from a T to G substitution at nucleotide position 347. The phenylalanine at codon 116 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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