ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)

gnomAD frequency: 0.00098  dbSNP: rs149258400
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083270 SCV000166301 benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000121884 SCV000514297 benign not specified 2015-09-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000492416 SCV000581043 likely benign Hereditary cancer-predisposing syndrome 2018-05-03 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.
Illumina Laboratory Services, Illumina RCV001166906 SCV001329331 benign Holoprosencephaly 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001083270 SCV001329332 benign Gorlin syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000034563 SCV002011174 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000492416 SCV002526843 likely benign Hereditary cancer-predisposing syndrome 2022-02-11 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121884 SCV002765999 likely benign not specified 2022-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121884 SCV002773933 benign not specified 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034563 SCV004160203 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PTCH1: BS1
PreventionGenetics, part of Exact Sciences RCV004549397 SCV004753745 likely benign PTCH1-related disorder 2020-09-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034563 SCV000043457 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121884 SCV000086086 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000034563 SCV001799470 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000034563 SCV001807086 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000034563 SCV001975539 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.