ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383733 SCV002696337 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-09 criteria provided, single submitter clinical testing The p.L458F variant (also known as c.1372C>T), located in coding exon 12 of the SUFU gene, results from a C to T substitution at nucleotide position 1372. The leucine at codon 458 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095049 SCV003265740 uncertain significance Gorlin syndrome; Medulloblastoma 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 458 of the SUFU protein (p.Leu458Phe). 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: 1771076). 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.
CeGaT Center for Human Genetics Tuebingen RCV003427466 SCV004127289 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing SUFU: PM2

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