ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)

dbSNP: rs2045472442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261592 SCV001438864 likely pathogenic Pierson syndrome criteria provided, single submitter clinical testing
GeneDx RCV001557926 SCV001779776 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28188379)
Labcorp Genetics (formerly Invitae), Labcorp RCV002537622 SCV003284856 likely pathogenic Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-04-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 324 of the LAMB2 protein (p.Cys324Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with nephrotic syndrome (PMID: 28188379; Invitae). ClinVar contains an entry for this variant (Variation ID: 982086). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001261592 SCV004805105 likely pathogenic Pierson syndrome 2024-03-17 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV001557926 SCV005413585 likely pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing PP3, PM1, PM2, PM3

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