ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys)

gnomAD frequency: 0.00003  dbSNP: rs368339529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693061 SCV000820915 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-03-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 571822). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is present in population databases (rs368339529, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 216 of the LAMB2 protein (p.Glu216Lys).
GeneDx RCV002253567 SCV002525429 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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