ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp)

dbSNP: rs199976372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531311 SCV000622896 benign Gorlin syndrome 2024-11-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797745 SCV002041523 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448589 SCV002734627 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-10 criteria provided, single submitter clinical testing The p.G37W variant (also known as c.109G>T), located in coding exon 1 of the PTCH1 gene, results from a G to T substitution at nucleotide position 109. The glycine at codon 37 is replaced by tryptophan, an amino acid with highly 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000103 SCV005623705 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing The PTCH1 c.109G>T (p.Gly37Trp) variant has been reported in individuals with epidermal nevus syndrome (PMID: 36171624 (2022)) and glioblastoma (PMID: 33486679 (2021)). The frequency of this variant in the general population, 0.00031 (4/13020 chromosomes in Other East Asian subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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