ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)

dbSNP: rs2141676609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002251604 SCV002517455 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002251604 SCV005329429 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.263G>A (p.Gly88Asp) variant in UMOD gene has been reported in an individual affected with renal disease (Yildiz et al., 2018). This variant is absent in the gnomAD Exomes. This variant has been submitted to the ClinVar database as Likely Pathogenic. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Gly88Asp in UMOD is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 88 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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