Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985902 | SCV001134583 | likely pathogenic | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing | The variant may result in the deletion of at least one complete exon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/279944 chr). |
Ambry Genetics | RCV002391046 | SCV002703453 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.164-9_178del24insGATCC variant spans the canonical acceptor site of coding exon 3 of the PMS2 gene. This variant results from a deletion of 24 nucleotides and insertion of GATCC nucleotides at positions c.164-9 to c.178. The canonical acceptor site is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |