ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.1243G>A (p.Gly415Ser)

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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 RCV002654821 SCV003520539 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 415 of the ACE protein (p.Gly415Ser). This variant is present in population databases (rs149252911, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ACE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV005028306 SCV005647272 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2024-01-08 criteria provided, single submitter clinical testing

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