ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.3090G>T (p.Lys1030Asn)

gnomAD frequency: 0.00001  dbSNP: rs374679629
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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 RCV002022217 SCV002262241 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 1030 of the ACE protein (p.Lys1030Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs374679629, ExAC 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002484918 SCV002788861 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2022-03-02 criteria provided, single submitter clinical testing

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