ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)

dbSNP: rs587777468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782019 SCV000920483 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335376 SCV001528513 pathogenic Torsion dystonia 4 2018-08-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 26643067]
GeneDx RCV000782019 SCV005079261 pathogenic not provided 2024-06-07 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; This variant is associated with the following publications: (PMID: 27809427, 33027950, 36187477, 34997144, 34120799, 34869359, 36939041, 26643067, 34514881, 35936629, 35661708)
GeneReviews RCV000258699 SCV000328460 not provided Hypomyelinating leukodystrophy 6 no assertion provided literature only

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