ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)

dbSNP: rs1581525728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853391 SCV000996269 likely pathogenic Complex cortical dysplasia with other brain malformations 7 2019-03-27 criteria provided, single submitter clinical testing This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. In silico tools used to predict the effect of this variant on protein function yield discordant results. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1070C>T (p.Pro357Leu) variant is classified as likely pathogenic.
Baylor Genetics RCV000853391 SCV001524037 likely pathogenic Complex cortical dysplasia with other brain malformations 7 2019-04-09 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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