ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)

dbSNP: rs121909492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380260 SCV001578256 pathogenic not provided 2023-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg249*) 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 present in population databases (rs121909492, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Nail-Patella Syndrome (PMID: 9837817). ClinVar contains an entry for this variant (Variation ID: 7010). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001380260 SCV004034362 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 34426522, 9837817)
OMIM RCV000007425 SCV000027625 pathogenic Nail-patella syndrome 1998-12-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000007425 SCV000746071 pathogenic Nail-patella syndrome 2017-09-18 no assertion criteria provided clinical testing

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