ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs)

dbSNP: rs377241839
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001222750 SCV001394866 uncertain significance Nemaline myopathy 8 2022-08-16 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the KLHL40 gene (p.Thr619Argfs*82). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the KLHL40 protein and extend the protein by 78 additional amino acid residues. This variant is present in population databases (rs760752881, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KLHL40-related conditions. ClinVar contains an entry for this variant (Variation ID: 950932). 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.