ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)

gnomAD frequency: 0.00004  dbSNP: rs200554674
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173843 SCV001336959 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873621 SCV002282496 uncertain significance Neuronopathy, distal hereditary motor, autosomal recessive 5 2024-04-23 criteria provided, single submitter clinical testing This sequence change affects codon 148 of the DNAJB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNAJB2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200554674, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DNAJB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 917200). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.