ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003011152 SCV003300354 uncertain significance Gorlin syndrome 2022-04-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 755 of the PTCH2 protein (p.Ala755Pro). This variant is present in population databases (rs200862802, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004550342 SCV004111209 uncertain significance PTCH2-related disorder 2023-01-03 criteria provided, single submitter clinical testing The PTCH2 c.2263G>C variant is predicted to result in the amino acid substitution p.Ala755Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-45293182-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005019549 SCV005649997 uncertain significance Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 2024-03-19 criteria provided, single submitter clinical testing

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