ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter)

dbSNP: rs1553275195
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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 RCV000520930 SCV000537161 pathogenic Amelogenesis imperfecta type 1A 2017-03-01 no assertion criteria provided research This variant lies within the penultimate exon of the LAMB3 gene, c.3340G>T. It is predicted to create a premature termination codon p.(E1114*) (NM_000228.2, NP_000219.2). This transcript is likely to escape nonsense mediated decay since the nonsense variant lies 43 bases away from the final exon-exon junction, therefore it may produce a truncated protein although this has not been experimentally determined.

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