Submissions for variant NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)

gnomAD frequency: 0.00051  dbSNP: rs143583842

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179856	SCV000232173	uncertain significance	not provided	2015-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002251335	SCV000395526	likely benign	Familial juvenile hyperuricemic nephropathy type 1	2016-06-14	criteria provided, single submitter	clinical testing
Mendelics	RCV002251335	SCV001139969	uncertain significance	Familial juvenile hyperuricemic nephropathy type 1	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000179856	SCV001716656	benign	not provided	2025-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000179856	SCV001986130	uncertain significance	not provided	2024-04-22	criteria provided, single submitter	clinical testing	Reported in a patient with familial juvenile hyperuricemic nephropathy and medullary cystic kidney disease in published literature (PMID: 21868615); of note, clinical information is limited; Published functional studies demonstrate no damaging effect (PMID: Olinger2021[preprint]); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25786455, 24429398, 22693617, 34426522, 32450155, 21868615, Olinger2021[preprint])
PreventionGenetics, part of Exact Sciences	RCV004539688	SCV004758099	likely benign	UMOD-related disorder	2023-01-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).