ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser)

gnomAD frequency: 0.00003  dbSNP: rs559827048
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204570 SCV000260578 likely benign Gorlin syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564991 SCV000676626 likely benign Hereditary cancer-predisposing syndrome 2018-07-22 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.
CSER _CC_NCGL, University of Washington RCV000204570 SCV000700137 likely benign Gorlin syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 56 year old male with a history of colon polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
CeGaT Center for Human Genetics Tuebingen RCV003430764 SCV004160187 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PTCH1: BP4, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003430764 SCV004219225 benign not provided 2022-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547481 SCV004730488 likely benign PTCH1-related disorder 2022-08-18 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).

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