ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)

dbSNP: rs1588257904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Nephrology Laboratory, The University of Tokyo Hospital RCV001027509 SCV001190008 pathogenic Nail-patella syndrome 2020-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558646 SCV004296071 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu57*) in the LMX1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMX1B are known to be pathogenic (PMID: 9590287, 15498463). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features consistent with nail-patella syndrome (PMID: 15498463; Invitae). ClinVar contains an entry for this variant (Variation ID: 827646). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003558646 SCV004704312 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing LMX1B: PVS1, PM2, PS4:Moderate

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