ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)

dbSNP: rs1228791562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000714153 SCV000844836 uncertain significance not provided 2019-03-12 criteria provided, single submitter clinical testing
Invitae RCV000714153 SCV001216901 likely pathogenic not provided 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 178 of the UMOD protein (p.Arg178Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant tubulointerstitial kidney disease (PMID: 29212948; Invitae). ClinVar contains an entry for this variant (Variation ID: 586921). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt UMOD protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV003133574 SCV003814147 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-04-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000714153 SCV004226904 likely pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing PM2_supporting, PS3_moderate, PS4

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