ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.667del (p.Arg223fs)

dbSNP: rs1564169730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855844 SCV002157586 pathogenic not provided 2021-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with LMX1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 599397). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg223Glyfs*52) 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).
Institute of Human Genetics, Cologne University RCV000736026 SCV000864184 pathogenic Nail-patella syndrome no assertion criteria provided clinical testing

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