Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000398053 | SCV000404680 | uncertain significance | Renal tubular dysgenesis | 2017-04-28 | criteria provided, single submitter | clinical testing | The ACE c.2570G>A (p.Arg857His) variant has been reported in a compound heterozygous state with a nonsense variant in one individual with renal tubular dysgenesis (Gribouval et al. 2012). Control data are unavailable for this variant, which is reported at a frequency of 0.00023 in the total population of the Exome Sequencing Project. Michaud et al. (2013) showed that the variant protein was not secreted from cells and had delayed release from the endoplasmic reticulum and golgi apparatus, as compared to the wildtype protein which was secreted into the culture medium. Further, this variant protein was devoid of any C-domain activity as compared to wildtype. Based on the evidence, the p.Arg857His variant is of uncertain 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. |
Fulgent Genetics, |
RCV002487424 | SCV002777786 | uncertain significance | Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin | 2022-03-18 | criteria provided, single submitter | clinical testing |