ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)

dbSNP: rs863224938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000199824 SCV000255498 likely pathogenic Lissencephaly due to TUBA1A mutation 2014-05-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000767513 SCV000898128 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.352G>A, p.(Val118Met) variant has been reported as a variant of de novo origin.
GeneDx RCV002225502 SCV002504545 pathogenic not provided 2024-03-19 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: 25326637, 34356170, 30744660)
MGZ Medical Genetics Center RCV000199824 SCV002580174 pathogenic Lissencephaly due to TUBA1A mutation 2021-09-03 criteria provided, single submitter clinical testing

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