ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.249+1G>A

gnomAD frequency: 0.00003  dbSNP: rs779317615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761248 SCV000891205 likely pathogenic LAMB2-related infantile-onset nephrotic syndrome 2017-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001772023 SCV002003886 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20556798)
Invitae RCV003768290 SCV004585917 likely pathogenic Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the LAMB2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LAMB2 are known to be pathogenic (PMID: 15367484). This variant is present in population databases (rs779317615, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 623146). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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