ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)

gnomAD frequency: 0.00002  dbSNP: rs397514689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579372 SCV000680495 pathogenic not provided 2018-05-25 criteria provided, single submitter clinical testing The R791X pathogenic variant in the ACE gene has been reported previously in the homozygous state in association with renal tubular dysgenesis (Gribouval et al., 2012).This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies of the R791X mutation (aka R762X using alternate nomenclature) indicate that although it exhibits N-domain enzyme activity, it lacks the C-domain activity and is not properly inserted in the plasma membrane (Michaud et al., 2014). The R791X mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R791X as a pathogenic variant. This variant has been seen Paternally inherited.
Fulgent Genetics, Fulgent Genetics RCV002483044 SCV002791915 pathogenic Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2021-09-13 criteria provided, single submitter clinical testing
OMIM RCV000043471 SCV000067281 pathogenic Renal tubular dysgenesis 2012-02-01 no assertion criteria provided literature only

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