ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)

gnomAD frequency: 0.00036  dbSNP: rs56023271
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123037 SCV000166332 benign Gorlin syndrome 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000123037 SCV000481240 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.
Illumina Laboratory Services, Illumina RCV000340228 SCV000481241 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.
GeneDx RCV000121903 SCV000514307 benign not specified 2015-08-19 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.
Ambry Genetics RCV000575546 SCV000674459 likely benign Hereditary cancer-predisposing syndrome 2019-01-23 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000034579 SCV002009305 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575546 SCV002535172 likely benign Hereditary cancer-predisposing syndrome 2021-04-14 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV000034579 SCV004160169 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PTCH1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004549400 SCV004753434 likely benign PTCH1-related disorder 2019-07-09 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).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034579 SCV000043442 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121903 SCV000086107 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000034579 SCV001799086 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000034579 SCV001809727 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121903 SCV002034103 benign not specified no assertion criteria provided clinical testing

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