ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln)

gnomAD frequency: 0.00001  dbSNP: rs924410863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705497 SCV000834497 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-07-26 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 581615). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 176 of the LAMB2 protein (p.Arg176Gln). 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.
Fulgent Genetics, Fulgent Genetics RCV000705497 SCV002786937 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-03-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480794 SCV004226107 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing

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