Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245548 | SCV000308800 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000794720 | SCV000934146 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change affects codon 718 of the LAMB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LAMB2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs756535650, gnomAD 0.02%). This variant has been observed in individual(s) with LAMB2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 258602). 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. |