ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)

dbSNP: rs121909489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760427 SCV000890310 pathogenic not provided 2019-01-11 criteria provided, single submitter clinical testing The Q82X variant in the LMX1B gene has been reported previously, using alternate nomenclature as Gln59Ter, in multiple affected individuals from a large family with nail patella syndrome (Vollrath et al., 1998). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q82X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q82X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760427 SCV001588938 pathogenic not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln82*) 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 nail-patella syndrome (PMID: 9618165). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gln59Ter. ClinVar contains an entry for this variant (Variation ID: 7005). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007420 SCV000027620 pathogenic Nail-patella syndrome 1998-07-01 no assertion criteria provided literature only

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