ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)

gnomAD frequency: 0.00003  dbSNP: rs747885797
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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 RCV000628394 SCV000749292 uncertain significance Gorlin syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 189 of the PTCH2 protein (p.Leu189Val). This variant is present in population databases (rs747885797, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 524558). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PTCH2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000765170 SCV000896403 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma 2018-10-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691259 SCV005186662 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004737906 SCV005349813 uncertain significance PTCH2-related disorder 2024-03-07 no assertion criteria provided clinical testing The PTCH2 c.565C>G variant is predicted to result in the amino acid substitution p.Leu189Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of South Asian descent in gnomAD. This variant is classified as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/524558/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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