ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)

gnomAD frequency: 0.00004  dbSNP: rs753249251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246143 SCV001419483 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-05-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1074 of the LAMB2 protein (p.Pro1074Leu). This variant is present in population databases (rs753249251, gnomAD 0.1%). 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: 970554). 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 RCV001246143 SCV002781098 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570342 SCV003738071 likely benign Inborn genetic diseases 2021-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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