Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000779227 | SCV000915772 | uncertain significance | Renal tubular dysgenesis | 2017-04-28 | criteria provided, single submitter | clinical testing | The ACE c.2149_2150delAT (p.Ile717GlnfsTer64) variant results in a frameshift and is predicted to cause a premature termination of the protein. Gribouval et al. (2012) reported one individual with renal tubular dysgenesis who carried this variant in a compound heterozygous state. Control data are unavailable for this variant, which is not reported in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. This variant is found in a region of good sequencing coverage and hence is presumed to be rare. The evidence for this variant is limited. However, considering the evidence and the potential impact of frameshift variants, the p.Ile717GlnfsTer64 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. |
Gene |
RCV001731922 | SCV001982921 | pathogenic | not provided | 2021-04-05 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22095942) |