ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)

dbSNP: rs1555162323
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624293 SCV000742324 likely pathogenic Inborn genetic diseases 2017-04-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767435 SCV000898050 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 25 gestational week old fetal individual of male sex. The c.959G>A, p.(Arg320His) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Bahi-Buisson et al. Brain, 2014 PMID: 24860126. HPO-standardized clinical features were: Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002532842 SCV003035457 pathogenic Lissencephaly due to TUBA1A mutation 2022-07-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403438 SCV004103840 likely pathogenic TUBA1A-related disorder 2023-09-15 criteria provided, single submitter clinical testing The TUBA1A c.959G>A variant is predicted to result in the amino acid substitution p.Arg320His. This variant has been reported as a de novo variant in multiple individuals with lissencephaly (see for example, Table 1, Bahi-Buisson et al. 2014. PubMed ID: 24860126; Table 1, Lefebvre et al. 2020. PubMed ID: 32732226; Table 1, Weber et al. 2022. PubMed ID: 35686685). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
GeneDx RCV004702204 SCV005201251 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30744660, 24860126, 35686685, 32732226, 25059107)

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