ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) (rs143284092)

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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 RCV000272561 SCV000445287 uncertain significance Nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327448 SCV000445288 uncertain significance Pierson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000685497 SCV000812980 uncertain significance Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1078 of the LAMB2 protein (p.Arg1078Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs143284092, ExAC 0.2%), including one homozygous individual. This variant has not been reported in the literature in individuals with LAMB2-related disease. ClinVar contains an entry for this variant (Variation ID: 345989). 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. 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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