ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.1460G>A (p.Arg487His)

gnomAD frequency: 0.00005  dbSNP: rs376430907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001902137 SCV002136172 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ACE-related conditions. This variant is present in population databases (rs376430907, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 487 of the ACE protein (p.Arg487His).
Fulgent Genetics, Fulgent Genetics RCV002478147 SCV002799717 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2022-04-10 criteria provided, single submitter clinical testing

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