Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000043468 | SCV000441510 | uncertain significance | Renal tubular dysgenesis | 2017-04-27 | criteria provided, single submitter | clinical testing | The AGTR1 c.356G>A (p.Trp119Ter) variant is a stop-gained variant reported in a single study in which it is found in a homozygous state in one individual from North Africa with renal tubular dysgenesis (Gribouval et al. 2012). Control data are unavailable for this variant which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite good coverage in the region so the variant is presumed to be rare. Based on the limited evidence, the p.Trp119Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for renal tubular dysgenesis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
OMIM | RCV000043468 | SCV000067278 | pathogenic | Renal tubular dysgenesis | 2012-02-01 | no assertion criteria provided | literature only |