ClinVar Miner

Submissions for variant NM_020041.3(SLC2A9):c.541G>A (p.Ala181Thr)

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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 RCV003063425 SCV003456491 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs766425306, gnomAD 0.03%). 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: "Benign"; Align-GVGD: "Class C0". The threonine 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 SLC2A9-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 181 of the SLC2A9 protein (p.Ala181Thr).
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004763527 SCV005368639 likely pathogenic Hypouricemia, renal, 2 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Polymorphism/CADD:Tolerable/phyloP:Nonconserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:0/ExAC_EastAsian:0.0001/dbSNP:rs766425306

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