ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser)

gnomAD frequency: 0.00006  dbSNP: rs369408727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695825 SCV000824346 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 584 of the LAMB2 protein (p.Arg584Ser). This variant is present in population databases (rs369408727, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 574006). 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. 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.
Illumina Laboratory Services, Illumina RCV001148459 SCV001309358 uncertain significance LAMB2-related infantile-onset nephrotic syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001148460 SCV001309359 uncertain significance Pierson syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV000695825 SCV002784848 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026353 SCV004894256 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.1750C>A (p.R584S) alteration is located in exon 14 (coding exon 14) of the LAMB2 gene. This alteration results from a C to A substitution at nucleotide position 1750, causing the arginine (R) at amino acid position 584 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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