ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.642+4G>T

gnomAD frequency: 0.00001  dbSNP: rs1462764945
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042953 SCV001206662 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-06-26 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 840851). This variant has not been reported in the literature in individuals affected with TPM3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 6 of the TPM3 gene. It does not directly change the encoded amino acid sequence of the TPM3 protein. It affects a nucleotide within the consensus splice site.

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.