ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)

gnomAD frequency: 0.00001  dbSNP: rs1057524645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434505 SCV000536144 likely benign not specified 2017-01-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001059667 SCV001224296 uncertain significance Gorlin syndrome 2022-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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 PTCH1 protein function. ClinVar contains an entry for this variant (Variation ID: 392816). This variant has not been reported in the literature in individuals affected with PTCH1-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1311 of the PTCH1 protein (p.Leu1311Ser).
Ambry Genetics RCV002356625 SCV002621736 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter clinical testing The p.L1311S variant (also known as c.3932T>C), located in coding exon 23 of the PTCH1 gene, results from a T to C substitution at nucleotide position 3932. The leucine at codon 1311 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.

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