ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)

dbSNP: rs587784495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147821 SCV000195295 pathogenic Lissencephaly due to TUBA1A mutation 2016-10-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767474 SCV000898089 pathogenic Tubulinopathy 2018-07-01 criteria provided, single submitter literature only A variant that is classified as pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.986A>G, p.(Asn329Ser) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Kumar et al. Hum Mol Genet, 2010 PMID: 20466733. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)
Baylor Genetics RCV000147821 SCV003836339 pathogenic Lissencephaly due to TUBA1A mutation 2022-03-29 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000147821 SCV001469276 pathogenic Lissencephaly due to TUBA1A mutation 2020-08-07 no assertion criteria provided clinical testing

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