ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3383-1G>A

dbSNP: rs1553275070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000519434 SCV000537162 pathogenic Amelogenesis imperfecta type 1A 2017-03-01 no assertion criteria provided research The c.3383-1G>A (NM_000228.2) variant affects the G of the conserved AG splice acceptor. Investigation of splicing by RT-PCR found that the variant leads to inclusion of intron 22 in the transcript, which is predicted to escape nonsense mediated decay and when translated is predicted to lead to the production of a premature termination codon p.(D1128Gfs*6) (NP_000219.2).

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