ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)

gnomAD frequency: 0.00063  dbSNP: rs779791579
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168136 SCV000218796 benign Gorlin syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388546 SCV000481356 uncertain significance Holoprosencephaly 7 2018-01-12 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 RCV000168136 SCV000481357 uncertain significance Gorlin syndrome 2018-01-12 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.
CeGaT Center for Human Genetics Tuebingen RCV000512831 SCV000609345 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PTCH1: BS1
Ambry Genetics RCV000567817 SCV000674455 likely benign Hereditary cancer-predisposing syndrome 2019-07-01 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.
Fulgent Genetics, Fulgent Genetics RCV000764853 SCV000896009 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000512831 SCV001786291 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing Reported previously in an individual with breast cancer (Chan et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30093976)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000512831 SCV002011170 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567817 SCV002526915 benign Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000512831 SCV004219230 likely benign not provided 2022-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552936 SCV004761010 likely benign PTCH1-related disorder 2024-01-29 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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