ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)

gnomAD frequency: 0.00678  dbSNP: rs115556836
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078462 SCV000110318 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000206005 SCV000260866 benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078462 SCV000303333 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000008705 SCV000481308 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000206005 SCV000481309 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000034564 SCV000610956 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568375 SCV000674475 benign Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000034564 SCV001739222 benign not provided 2018-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11941477, 20981092, 17096318, 22703879, 24728327)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078462 SCV002046900 benign not specified 2021-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078462 SCV002066066 benign not specified 2021-04-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568375 SCV002526845 benign Hereditary cancer-predisposing syndrome 2020-07-07 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002504769 SCV002808047 likely benign Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2021-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078462 SCV003928893 likely benign not specified 2023-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034564 SCV004010839 benign not provided 2023-12-01 criteria provided, single submitter clinical testing PTCH1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000034564 SCV005222452 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000008705 SCV000028914 pathogenic Holoprosencephaly 7 2006-12-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034564 SCV000043456 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000078462 SCV000086087 not provided not specified 2013-09-19 no assertion provided reference population

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