Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519607 | SCV000618074 | likely pathogenic | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | The c.564_569delCCATGT variant in the PTCH1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.564_569delCCATGT variant is an in-frame deletion that results in the loss of two amino acid residues, denoted p.H189_V190del. the residues removed by this deletion are conserved across species. Based on currently available evidence, c.564_569delCCATGT is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded. |