ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys)

gnomAD frequency: 0.00004  dbSNP: rs200658738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532494 SCV000651530 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2017-03-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 746 of the LAMB2 protein (p.Arg746Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs200658738, ExAC 0.04%) but has not been reported in the literature in individuals with a LAMB2-related disease. 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. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000532494 SCV002776005 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2021-11-04 criteria provided, single submitter clinical testing

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