ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg)

gnomAD frequency: 0.00003  dbSNP: rs1449765833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051483 SCV001215638 benign Gorlin syndrome 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416388 SCV002724573 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-08 criteria provided, single submitter clinical testing The p.T36R variant (also known as c.107C>G), located in coding exon 1 of the PTCH1 gene, results from a C to G substitution at nucleotide position 107. The threonine at codon 36 is replaced by arginine, an amino acid with similar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004789383 SCV005402261 uncertain significance Basal cell nevus syndrome 1 2023-12-27 criteria provided, single submitter clinical testing The PTCH1 c.107C>G (p.Thr36Arg) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. 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.

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