ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)

dbSNP: rs2121242709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574456 SCV001801276 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg RCV001803371 SCV002047683 likely pathogenic Tubulinopathy-associated dysgyria 2021-11-01 criteria provided, single submitter research

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