ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys)

gnomAD frequency: 0.00003  dbSNP: rs374346190
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555828 SCV000623018 benign Gorlin syndrome 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021658 SCV001183303 benign Hereditary cancer-predisposing syndrome 2022-10-26 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000106 SCV005623748 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing The PTCH1 c.4012C>T (p.Arg1338Cys) variant has not been reported in individuals with PTCH1-related conditions in the published literature. The frequency of this variant in the general population, 0.000036 (4/110098 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005231007 SCV005873447 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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