ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.895A>G (p.Met299Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV004556128 SCV005045250 uncertain significance Complex cortical dysplasia with other brain malformations 7 2024-05-22 criteria provided, single submitter curation The heterozygous p.Met299Val variant in TUBB2B was identified by our study in 4 family members with cortical dysplasia, complex, with other brain malformations 7. The variant has not been previously reported in individuals with cortical dysplasia, complex, with other brain malformations 7 and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. The number of missense variants reported in TUBB2B in the general population is lower than expected, suggesting there is little benign variation in this gene and slightly increasing the possibility that a missense variant in this gene may not be tolerated. In summary, the clinical significance of the p.Met299Val variant is uncertain. ACMG/AMP Criteria applied: PP1, PM2_Supporting, PP3_Moderate, PP2 (Richards 2015).

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