ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.811G>A (p.Ala271Thr)

dbSNP: rs587777074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004814998 SCV005439250 uncertain significance not provided 2024-06-20 criteria provided, single submitter clinical testing Reported in a patient with spasmodic dystonia, oromandibular dystonia, and dyskinesia in published literature (PMID: 23595291); 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; This variant is associated with the following publications: (PMID: 30079973, 23595291, 35260199, 29127012)
OMIM RCV000077783 SCV000109609 pathogenic Torsion dystonia 4 2013-04-01 no assertion criteria provided literature only

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