ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp)

dbSNP: rs1376202280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816675 SCV000957193 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2018-08-21 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, 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 LAMB2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 954 of the LAMB2 protein (p.Cys954Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. 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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