ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)

gnomAD frequency: 0.00026  dbSNP: rs148491867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057551 SCV001222049 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-08-17 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 852849). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs148491867, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 629 of the LAMB2 protein (p.Pro629Leu).
Fulgent Genetics, Fulgent Genetics RCV001057551 SCV002787868 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-04-19 criteria provided, single submitter clinical testing

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