Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department of Pathology and Laboratory Medicine, |
RCV001292505 | SCV001481114 | likely pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Ser2675AlafsX10 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, GeneInsight-COGR, LOVD 3.0, ADPKD Mutation Database, PKD1-LOVD, databases. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Ser2675AlafsX10 variant is predicted to cause a frameshift, which alters the protein amino acid sequence beginning at codon 2675 and leads to a premature stop codon 10 codons downstream.This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in ADPKD and is the type of variant expected to cause the disorder. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic. |