ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe)

dbSNP: rs146962414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236692 SCV001409426 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 952 of the LAMB2 protein (p.Ile952Phe). This variant is present in population databases (rs146962414, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. 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: 962771). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481011 SCV004226105 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing BP4

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