ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)

dbSNP: rs797046074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193632 SCV000249304 pathogenic Complex cortical dysplasia with other brain malformations 5 2015-04-24 criteria provided, single submitter clinical testing
UCLA Clinical Genomics Center, UCLA RCV000193632 SCV000255500 likely pathogenic Complex cortical dysplasia with other brain malformations 5 2014-04-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001563629 SCV001786607 pathogenic TUBB2A-related tubulinopathy 2020-12-09 criteria provided, single submitter clinical testing The TUBB2A c.1033A>T (p.Ile345Phe) variant is a missense variant that has been identified in a de novo heterozygous state in an individual with developmental delay, epilepsy, seizures, infantile spasms, perisylvian polymicrogyria, microcephaly and plagiocephaly (Lee et al. 2014). The p.Ile345Phe variant is not found in the Genome Aggregation Database in a region of reasonably good sequence coverage, suggesting that it is a rare variant. Additionally, it is located in a C-terminal domain of the TUBB2A gene that is important for protein interaction (Cai et al. 2020) and in silico tools predict damaging effect of the variant on the protein. Based on the collective evidence and application of the ACMG criteria, the p.Ile345Phe variant is classified as pathogenic for TUBB2A-related tubulinopathy.

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