ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.4746-3C>A

gnomAD frequency: 0.00012  dbSNP: rs200654865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590661 SCV001825850 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001590661 SCV003287293 uncertain significance not provided 2024-01-07 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the LAMB1 gene. It does not directly change the encoded amino acid sequence of the LAMB1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200654865, gnomAD 0.02%). 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: 1219986). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003910926 SCV004720871 likely benign LAMB1-related disorder 2020-01-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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