Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000313158 | SCV000464094 | uncertain significance | Autosomal recessive polycystic kidney disease | 2016-10-27 | criteria provided, single submitter | clinical testing | The PKHD1 c.3474G>A (p.Trp1158Ter) variant is a stop-gained variant that is predicted to result in premature truncation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite being located in a region of good sequencing coverage; therefore, the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Trp1158Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive polycystic kidney disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Counsyl | RCV000313158 | SCV001132270 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-12-18 | no assertion criteria provided | clinical testing |