ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)

dbSNP: rs1555487528
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518183 SCV000616231 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This variant has been identified in multiple unrelated individuals with clinical features associated with this gene, and segregates with disease in at least one family. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant occurs as the most likely explanation for disease in a significant number of internal cases, suggesting this variant is associated with disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 16135773)
Fulgent Genetics, Fulgent Genetics RCV002251317 SCV001752771 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000518183 SCV003787051 pathogenic not provided 2024-10-03 criteria provided, single submitter clinical testing This variant, c.529_555del, results in the deletion of 9 amino acid(s) of the UMOD protein (p.His177_Arg185del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with familial juvenile hyperuricaemic nephropathy (PMID: 12471200). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12254). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002251317 SCV000033287 pathogenic Familial juvenile hyperuricemic nephropathy type 1 2002-12-01 no assertion criteria provided literature only
GeneReviews RCV002251317 SCV001999872 not provided Familial juvenile hyperuricemic nephropathy type 1 no assertion provided literature only Common pathogenic variant
PreventionGenetics, part of Exact Sciences RCV004739301 SCV005345123 pathogenic UMOD-related disorder 2024-08-16 no assertion criteria provided clinical testing The UMOD c.529_555del27 variant is predicted to result in an in-frame deletion (p.His177_Arg185del). In a linkage mapping and sequencing study, this variant has been reported to completely segregate with disease in a large multigenerational family affected by familial juvenile hyperuricaemic nephropathy (Family 1 in Hart et al. 2002. PubMed ID: 12471200). In addition, this variant has also been reported in patients with UMOD-related diseases (Table S3 of Bleyer et al. 2022. PubMed ID: 35325889; Table S1 of Olinger et al. 2020. PubMed ID: 32450155; Wilson et al. 2020. PubMed ID: 35372954). In the ClinVar database, this variant has been interpreted as pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/12254/). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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