ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2662_2671delinsTAGT (p.Asp888_Pro891delinsTer) (rs1064793991)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485865 SCV000567530 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing The c.2860_2869del10insTAGT variant in the PTCH1 gene creates a premature Stop codon at positionAspartic acid 954, denoted p.Asp954Ter. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Thec.2860_2869del10insTAGT variant was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

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