ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)

dbSNP: rs1567310019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000714155 SCV000844838 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000714155 SCV002574574 likely pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing Published functional studies demonstrate altered protein trafficking with ER retention and reduce cell surface expression (Bernascone et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17010121, 14569098, 32450155, 25786455, 21868615)
Fulgent Genetics, Fulgent Genetics RCV002499299 SCV002809357 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2021-07-07 criteria provided, single submitter clinical testing

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