ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.272_274del (p.Ser91del)

dbSNP: rs1965755740
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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 RCV002504386 SCV002794680 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2021-11-18 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328180 SCV001449468 likely pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2016-09-25 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.272_274del, in the UMOD gene. This in frame deletion of 3 nucleotides leads to the loss of a single residue p.Ser91 which is located in an EGF-like domain of UMOD involved in calcium binding. This variant has not been reported in any population databases (i.e. ExAC browser, ESP or dbSNP). It is listed in the UMOD mutation catalog (http://www.ukdcure.org/mutation_catalog) as a variant causing Uromodulin Kidney Disease (UKD) however there are no details about the variant or patient.

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