ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.325T>C (p.Trp109Arg)

dbSNP: rs2147525555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036499 SCV002309293 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACE-related conditions. This sequence change replaces tryptophan with arginine at codon 109 of the ACE protein (p.Trp109Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). 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.

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