ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1271C>T (p.Ala424Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017235 SCV005638478 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-06-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739051 SCV005341112 uncertain significance UMOD-related disorder 2024-08-26 no assertion criteria provided clinical testing The UMOD c.1271C>T variant is predicted to result in the amino acid substitution p.Ala424Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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