ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528699 SCV004108373 uncertain significance UMOD-related disorder 2023-05-25 criteria provided, single submitter clinical testing The UMOD c.200A>G variant is predicted to result in the amino acid substitution p.Asp67Gly. This variant was reported in an individual with end-stage kidney disease (Kidd et al. 2020. PubMed ID: 32954071, supplementary table 1). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005012927 SCV005638555 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-06-03 criteria provided, single submitter clinical testing

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