ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.346G>A (p.Gly116Arg)

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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 RCV002627616 SCV002979068 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 116 of the UMOD protein (p.Gly116Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UMOD-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005008676 SCV005638542 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-03-27 criteria provided, single submitter clinical testing

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