ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.2317G>A (p.Val773Met)

gnomAD frequency: 0.00008  dbSNP: rs143830698
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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 RCV002029621 SCV002306040 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 773 of the ACE protein (p.Val773Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs143830698, ExAC 0.007%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002507809 SCV002815490 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2021-11-30 criteria provided, single submitter clinical testing

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