ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)

dbSNP: rs1064793286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483973 SCV000565643 pathogenic not provided 2023-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 24860126, 33604570, 30744660, 29057214, 28252636, 22948023, 20466733, 34426522)
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767411 SCV000898026 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.1168C>T, p.(Arg390Cys) 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); Cortical gyral simplification (HP:0009879); Cerebellar hypoplasia (HP:0001321)
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805098 SCV002053759 likely pathogenic Lissencephaly due to TUBA1A mutation criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001805098 SCV004027715 pathogenic Lissencephaly due to TUBA1A mutation 2023-07-25 criteria provided, single submitter clinical testing Criteria applied: PS4,PM5_STR,PM1,PM2_SUP,PP3
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257007 SCV001433563 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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