ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.698G>T (p.Gly233Val)

dbSNP: rs1965720354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328179 SCV001449467 uncertain significance Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2018-05-03 no assertion criteria provided clinical testing This patient is heterozygous for a variant c.698G>T (p.Gly233Val) in the UMOD gene. To our knowledge, this variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP), and also has not been previously reported in the literature or any disease specific databases. In silico analysis (Alamut Visual v2.8.1) is inconclusive regarding this variant, SIFT predicts it to be likely benign whereas PolyPhen2 and MutationTaster predicts it to be likely pathogenic. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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