ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)

gnomAD frequency: 0.00001  dbSNP: rs777096311
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689113 SCV000816751 benign Gorlin syndrome 2024-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021767 SCV001183424 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-19 criteria provided, single submitter clinical testing The p.A1353V variant (also known as c.4058C>T), located in coding exon 23 of the PTCH1 gene, results from a C to T substitution at nucleotide position 4058. The alanine at codon 1353 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459676 SCV004206617 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-06-23 criteria provided, single submitter clinical testing

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.