ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)

dbSNP: rs797046075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192694 SCV000249306 likely pathogenic Complex cortical dysplasia with other brain malformations 7 2013-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000422483 SCV000521238 pathogenic not provided 2023-04-04 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23361065, 24860126, 25059107, 26934450)
MGZ Medical Genetics Center RCV000192694 SCV002579648 likely pathogenic Complex cortical dysplasia with other brain malformations 7 2021-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000422483 SCV004293244 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TUBB2B protein function. ClinVar contains an entry for this variant (Variation ID: 212497). This missense change has been observed in individual(s) with cortical malformations (PMID: 23361065, 24860126). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 98 of the TUBB2B protein (p.Gly98Arg). 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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