ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly)

dbSNP: rs777643155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532554 SCV000651570 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2017-05-27 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on LAMB2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a LAMB2-related disease. This variant is present in population databases (rs777643155, ExAC 0.001%). This sequence change replaces aspartic acid with glycine at codon 1747 of the LAMB2 protein (p.Asp1747Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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