ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)

gnomAD frequency: 0.00001  dbSNP: rs121912488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335017 SCV001528046 likely pathogenic LAMB2-related infantile-onset nephrotic syndrome 2018-12-18 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002504793 SCV002809837 likely pathogenic Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-04-15 criteria provided, single submitter clinical testing
Invitae RCV002504793 SCV003305635 pathogenic Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 246 of the LAMB2 protein (p.Arg246Trp). This variant is present in population databases (rs121912488, gnomAD 0.003%). This missense change has been observed in individuals with nephrotic syndrome (PMID: 15367484, 18672223, 29127259, 30295827). ClinVar contains an entry for this variant (Variation ID: 14530). 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. Studies have shown that this missense change alters LAMB2 gene expression (PMID: 15367484). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015629 SCV000035894 pathogenic Pierson syndrome 2004-11-01 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849266 SCV002106724 likely pathogenic Nephrotic syndrome 2017-11-10 no assertion criteria provided literature only

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