Submissions for variant NM_006087.4(TUBB4A):c.189G>A (p.Ala63=)

gnomAD frequency: 0.00251  dbSNP: rs150812047

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000275181	SCV000414902	likely benign	Hypomyelinating leukodystrophy 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000330295	SCV000414903	likely benign	Torsion dystonia 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001712117	SCV000528883	benign	not provided	2019-06-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26318963)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000275181	SCV000554476	benign	Hypomyelinating leukodystrophy 6	2025-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712117	SCV002546047	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TUBB4A: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001712117	SCV005209185	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003912385	SCV004737166	likely benign	TUBB4A-related disorder	2019-05-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).