ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.817G>T (p.Val273Phe)

dbSNP: rs121917774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566754 SCV001790321 likely pathogenic not provided 2020-01-27 criteria provided, single submitter clinical testing In vitro functional studies demonstrate that V273F has a damaging effect on protein processing and function (Dinour et al., 2014; Vylet'al et al., 2006); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16883323, 12634862, 24648000)
OMIM RCV002251327 SCV000033297 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2006-09-01 no assertion criteria provided literature only

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