ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.1573A>G (p.Ile525Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV002294554 SCV002587035 uncertain significance Intellectual disability, autosomal dominant 54 2021-12-14 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003774986 SCV004625209 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1712280). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 525 of the CAMK2B protein (p.Ile525Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CAMK2B-related conditions. 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 tolerated. 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.

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