ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)

gnomAD frequency: 0.00010  dbSNP: rs370354759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148764 SCV000190501 uncertain significance Gorlin syndrome 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
GeneDx RCV001719925 SCV000521004 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16508594, 25637381)
Invitae RCV000148764 SCV000549093 likely benign Gorlin syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010476 SCV001170680 likely benign Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004551298 SCV004116288 uncertain significance PTCH1-related disorder 2022-10-26 criteria provided, single submitter clinical testing The PTCH1 c.1234G>T variant is predicted to result in the amino acid substitution p.Ala412Ser. This variant was reported in an individual with nevoid basal cell carcinoma syndrome (Pruvost-Balland et al. 2006. PubMed ID: 16508594). This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD ( and has conflicting interpretations in ClinVar of likely benign and uncertain ( At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001719925 SCV001963410 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001719925 SCV001965049 likely benign not provided no assertion criteria provided 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.