ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3391+4A>C

gnomAD frequency: 0.00004  dbSNP: rs766051911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001950160 SCV002205789 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing This sequence change falls in intron 24 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 (rs766051911, gnomAD 0.1%). 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: 1429736). 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 RCV003911109 SCV004732533 likely benign LAMB1-related disorder 2021-10-25 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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