ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)

dbSNP: rs137853195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000000455 SCV002012213 pathogenic Complex cortical dysplasia with other brain malformations 7 2021-10-02 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as de novoo in a similarly affected individual (ClinVar ID: VCV000000427.1, PMID: 19465910, PS1, PS2). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.919, 3Cnet: 0.997, PP3). Patient's phenotype is considered compatible with Cortical Dysplasia, Complex, with Other Brain Malformations 7 (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000000455 SCV000020604 pathogenic Complex cortical dysplasia with other brain malformations 7 2009-06-01 no assertion criteria provided literature only

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