ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)

gnomAD frequency: 0.00003  dbSNP: rs753002023
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080435 SCV000284321 benign Gorlin syndrome 2024-01-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513814 SCV000610983 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563327 SCV000674454 benign Hereditary cancer-predisposing syndrome 2021-04-26 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.
Fulgent Genetics, Fulgent Genetics RCV000764847 SCV000896003 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000513814 SCV000970104 likely benign not provided 2018-06-06 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.
Sema4, Sema4 RCV000563327 SCV002526833 likely benign Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000513814 SCV004219169 benign not provided 2023-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547583 SCV004761322 likely benign PTCH1-related disorder 2023-12-21 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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