ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1907C>G (p.Pro636Arg) (rs368362152)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571964 SCV000674467 likely benign Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification,In silico models in agreement (benign)
Invitae RCV000161923 SCV000211905 uncertain significance Gorlin syndrome 2018-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 702 of the PTCH1 protein (p.Pro702Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs368362152, ExAC 0.01%). This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 183062). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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