ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)

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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 RCV002512873 SCV003441483 pathogenic not provided 2022-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as 233delTG or c.234_235delGT. This premature translational stop signal has been observed in individual(s) with nail-patella syndrome (PMID: 9618165, 25898926). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Tyr102Leufs*45) 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).
GeneDx RCV002512873 SCV003842873 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Frameshift 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; Also known as 233delTG due to use of alternate nomenclature; This variant is associated with the following publications: (PMID: 9618165)
OMIM RCV000007419 SCV000027619 pathogenic Nail-patella syndrome 1998-07-01 no assertion criteria provided literature only

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