ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2694G>A (p.Pro898=) (rs377213209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249238 SCV000303342 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000528641 SCV000622973 uncertain significance Gorlin syndrome 2018-07-23 criteria provided, single submitter clinical testing This sequence change affects codon 964 of the PTCH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PTCH1 protein. This variant is present in population databases (rs377213209, ExAC 0.02%). This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 255679). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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