ClinVar Miner

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

gnomAD frequency: 0.00066  dbSNP: rs138911275
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Total submissions: 18
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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: 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 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 RCV004547468 SCV004759160 likely benign PTCH1-related disorder 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

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