ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)

gnomAD frequency: 0.00011  dbSNP: rs587780697
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123007 SCV000166302 benign Gorlin syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568151 SCV000674452 likely benign Hereditary cancer-predisposing syndrome 2018-06-01 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 RCV001166904 SCV001329327 uncertain significance Holoprosencephaly 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000123007 SCV001329328 likely benign Gorlin syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Sema4, Sema4 RCV000568151 SCV002526844 likely benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477519 SCV004219177 benign not provided 2022-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551203 SCV004710888 likely benign PTCH1-related disorder 2021-05-25 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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