ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp)

dbSNP: rs748787734
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837950 SCV002098218 likely pathogenic not provided 2022-04-19 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24785942)
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000552933 SCV005187389 likely pathogenic Hypomyelinating leukodystrophy 6 2020-12-28 criteria provided, single submitter clinical testing This missense variant (c.1062C>G, P.Cys354Trp) was not observed in population databases (gnomAD). It has been reported in the literature (PMID 24785942) and variant prediction programs suggest a deleterious effect, although no functional studies have been published. It was found in an affected individual and his asymptomatic father, who is believed to be mosaic for the change.
Undiagnosed Diseases Network, NIH RCV000552933 SCV000622155 likely pathogenic Hypomyelinating leukodystrophy 6 2016-04-18 no assertion criteria provided clinical testing Patient's MRI consistent with the findings in H-ABC. Previous MRIs did not show these findings, as this is a progressive disorder. Likely pathogenicity is based on laboratory report as well as the clinical findings correlating with the diagnosis.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.