ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)

gnomAD frequency: 0.00002  dbSNP: rs1292231609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197031 SCV001367666 uncertain significance Cobblestone lissencephaly without muscular or ocular involvement 2019-03-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001876280 SCV002228211 pathogenic not provided 2024-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1550*) in the LAMB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB1 are known to be pathogenic (PMID: 23472759, 25925986). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with LAMB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 930970). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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