ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)

gnomAD frequency: 0.00001  dbSNP: rs1060502284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460060 SCV000549078 likely benign Gorlin syndrome 2024-06-11 criteria provided, single submitter clinical testing
GeneDx RCV002259341 SCV002538730 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000460060 SCV002584639 uncertain significance Gorlin syndrome 2022-09-20 criteria provided, single submitter clinical testing The PTCH1 c.329G>C (p.Gly110Ala) missense change has a maximum subpopulation frequency of 0.0016% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with nevoid basal cell carcinoma syndrome. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV002323723 SCV002607053 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-15 criteria provided, single submitter clinical testing The p.G110A variant (also known as c.329G>C), located in coding exon 2 of the PTCH1 gene, results from a G to C substitution at nucleotide position 329. The glycine at codon 110 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003463913 SCV004206574 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-09-05 criteria provided, single submitter clinical testing

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