ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.2570G>A (p.Arg857His)

dbSNP: rs146089353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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, 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

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