ClinVar Miner

Submissions for variant NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn)

dbSNP: rs1803693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002052172 SCV002318699 likely pathogenic Complex cortical dysplasia with other brain malformations 4 2022-03-22 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000392052). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.726>=0.6). A missense variant is a common mechanism associated with Cortical dysplasia, complex, with other brain malformations 4. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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