ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.768C>G (p.Cys256Trp)

dbSNP: rs774838407
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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 RCV001328228 SCV001449471 uncertain significance Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 2018-06-07 no assertion criteria provided clinical testing This individual is heterozygous for the c.768C>G variant in the UMOD gene. This variant is located within the region of the UMOD gene reported to be a mutational hotspot (Dahan et al 2003 J Am Soc Nephrol 14: 2883-2893). The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and MutationTaster suggest that this variant is likely to be pathogenic. However, this analysis alone cannot be used to confirm pathogenicity. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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