ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) (rs756535650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245548 SCV000308800 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000794720 SCV000934146 uncertain significance Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2019-12-02 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. This variant is present in population databases (rs756535650, ExAC 0.02%). This variant has not been reported in the literature in individuals with LAMB2-related disease. 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, but this prediction has not been confirmed by published transcriptional studies. 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.

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