Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV001289136 | SCV001476749 | pathogenic | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
| Department of Pathology and Laboratory Medicine, |
RCV000503673 | SCV000592790 | pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1, p.Gln2103X variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project, Exome Aggregation Consortium (March 16, 2014), Clinvitae, ClinVar, GeneInsight COGR, MutDB, or PKD1-LOVD databases. The PKD1 p.Gln2103X variant was identified in ADPKD Mutation Database (classified as pathogenic) and PKD1-LOVD 3.0 (classified as pathogenic). The p.Gln2103X variant leads to a premature stop codon at position 2103, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in autosomal dominant polycystic kidney disease and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. |