ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)

gnomAD frequency: 0.00003  dbSNP: rs138729094
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462282 SCV000549084 likely benign Gorlin syndrome 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011386 SCV001171698 likely benign Hereditary cancer-predisposing syndrome 2023-04-05 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.
Baylor Genetics RCV000462282 SCV002030200 uncertain significance Gorlin syndrome 2021-04-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998242 SCV005623716 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing The PTCH1 c.139C>T (p.Arg47Trp) variant has been reported in the published literature in a reportedly healthy individual (PMID: 24728327 (2014)). The frequency of this variant in the general population, 0.000024 (3/123652 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
ITMI RCV000121882 SCV000086084 not provided not specified 2013-09-19 no assertion provided reference population

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