ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys)

gnomAD frequency: 0.00001  dbSNP: rs754294863
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782691 SCV005395802 uncertain significance not specified 2024-09-17 criteria provided, single submitter clinical testing Variant summary: TUBB1 c.4C>T (p.Arg2Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251432 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4C>T has been reported in the literature in at-least one individual affected with bleeding disorder (Almazni_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Autosomal Dominant Macrothrombocytopenia TUBB1-Related. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32935436). ClinVar contains an entry for this variant (Variation ID: 988869). Based on the evidence outlined above, the variant was classified as uncertain significance.
Birmingham Platelet Group; University of Birmingham RCV001270589 SCV001450888 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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.