ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.819+1G>A

dbSNP: rs1588307501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Nephrology Laboratory, The University of Tokyo Hospital RCV001027514 SCV001190014 pathogenic Nail-patella syndrome 2020-03-16 criteria provided, single submitter clinical testing
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV001027514 SCV005397447 pathogenic Nail-patella syndrome 2023-05-08 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) one base past the end of exon 5 of 8 of the LMX1B gene. This variant is predicted to disrupt the canonical donor splice of exon 5 resulting in the in-frame deletion of exon 5. This deletion would occur in the homeodomain of the LMX1B encoded protein, LIM homeobox transcription factor 1 beta. This is a previously reported variant (ClinVar) that has been observed in individuals affected by il-patella syndrome (PMID: 32457516, 28335748, 18535845). This variant is absent from the gnomAD population database (0 of approximately 250,000 alleles). To our knowledge, studies examining the functiol consequence of this variant have not been published. Based on the available evidence, we consider this a pathogenic variant. ACMG Criteria: PM2, PS4, PVS1

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