ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465077 SCV002759472 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2022-10-20 criteria provided, single submitter clinical testing The c.176A>G variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published nor reported to clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions were not confirmed by any published functional studies. The variant is located in a mutational hotspot region and an alternative variant in this position (c.176A>C, p.Asp59Ala) has been previously identified in similarly affected individuals (PMID: 14569098) and reported to HGMD (ID: CM034982).

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