ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)

dbSNP: rs1567309582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV002251376 SCV001434942 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2018-10-19 criteria provided, single submitter clinical testing The c.774G>C (p.Trp258Cys) variant in the UMOD gene is identified in a patient with clinical diagnosis of autosomal dominant tubulointerstitial kidney disease referred for genetic testing in our laboratory. This variant segregates with disease in the family. This variant has never been reported in general population databases and is located in a region where most of the variants associated with kidney disease in the UMOD gene are reported (PMID 28781372). Multiple lines of algorithms predict deleterious effect of the p.Trp258Cys change. Therefore, this c.774G>C (p.Trp258Cys) variant in the UMOD gene is classified as likely pathogenic.
Gharavi Laboratory, Columbia University RCV000681859 SCV000809338 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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