ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.127G>A (p.Ala43Thr)

gnomAD frequency: 0.00001  dbSNP: rs766536174
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324229 SCV001515175 benign Gorlin syndrome 2024-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384430 SCV002694151 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-30 criteria provided, single submitter clinical testing The p.A43T variant (also known as c.127G>A), located in coding exon 1 of the PTCH1 gene, results from a G to A substitution at nucleotide position 127. The alanine at codon 43 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.