Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003544869 | SCV004263343 | uncertain significance | not provided | 2023-11-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 26 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 (rs777762517, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with LAMB1-related conditions. 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 is not likely to affect RNA splicing. 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. |
Prevention |
RCV003966461 | SCV004778161 | likely benign | LAMB1-related disorder | 2019-08-21 | no assertion criteria provided | 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). |