ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp)

gnomAD frequency: 0.00007  dbSNP: rs200316162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295481 SCV001484404 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 999478). This variant is present in population databases (rs200316162, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 263 of the LAMB2 protein (p.Arg263Trp).
Fulgent Genetics, Fulgent Genetics RCV001295481 SCV002786898 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-02-18 criteria provided, single submitter clinical testing

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