ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) (rs199570781)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000361384 SCV000445283 uncertain significance Nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266674 SCV000445284 uncertain significance Pierson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000649521 SCV000771350 uncertain significance Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2019-01-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1119 of the LAMB2 protein (p.Gly1119Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs199570781, ExAC 0.02%). This variant has not been reported in the literature in individuals with LAMB2-related disease. ClinVar contains an entry for this variant (Variation ID: 345987). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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