ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)

dbSNP: rs752667133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056425 SCV001220868 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 1712 of the LAMB2 protein (p.Thr1712Lys). This variant is present in population databases (rs752667133, gnomAD 0.006%). 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: 851915). 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. 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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