ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.741+1G>T

dbSNP: rs1427331961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001860462 SCV002247219 pathogenic not provided 2021-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 522461). This variant is also known as 672+1G>T . Disruption of this splice site has been observed in individuals with Nail-patella syndrome (PMID: 9837817). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the LMX1B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LMX1B are known to be pathogenic (PMID: 9590287, 15498463).
OMIM RCV000625602 SCV000027624 pathogenic Nail-patella syndrome 1998-12-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625602 SCV000746101 pathogenic Nail-patella syndrome 2017-09-18 no assertion criteria provided clinical testing

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