Submissions for variant NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)

gnomAD frequency: 0.00066  dbSNP: rs138911275

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081022	SCV000153864	benign	Gorlin syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000034570	SCV000514302	likely benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26893459, 26353884, 27498913, 22885699, 11941477, 24728327, 26875496, 22703879, 21188540, 24055113, 25637381, 22820256, 23718828, 17001668, 20635334, 24686850, 24211491, 26489027, 26986070, 27153395, 27930734, 29575684, 33209614)
Ambry Genetics	RCV000574977	SCV000674462	likely benign	Hereditary cancer-predisposing syndrome	2018-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000008707	SCV001331103	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000034570	SCV002011173	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000034570	SCV002046845	benign	not provided	2021-04-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574977	SCV002526878	benign	Hereditary cancer-predisposing syndrome	2020-12-04	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000034570	SCV003917674	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	PTCH1: BS1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000121888	SCV004027554	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003944808	SCV004759160	likely benign	PTCH1-related condition	2020-01-17	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).
OMIM	RCV000008707	SCV000028916	pathogenic	Holoprosencephaly 7	2006-12-01	no assertion criteria provided	literature only
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034570	SCV000043451	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
ITMI	RCV000121888	SCV000086091	not provided	not specified	2013-09-19	no assertion provided	reference population
CSER _CC_NCGL, University of Washington	RCV000148761	SCV000190498	likely benign	Holoprosencephaly sequence	2014-06-01	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000034570	SCV001739541	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000034570	SCV001798067	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000034570	SCV001807240	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000034570	SCV001931167	likely benign	not provided		no assertion criteria provided	clinical testing