ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.97C>T (p.Leu33Phe)

gnomAD frequency: 0.00021  dbSNP: rs138075372
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000525508 SCV000654263 likely benign Nemaline myopathy 8 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001591284 SCV001816223 likely benign not provided 2020-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525310 SCV003722256 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.97C>T (p.L33F) alteration is located in exon 1 (coding exon 1) of the KLHL40 gene. This alteration results from a C to T substitution at nucleotide position 97, causing the leucine (L) at amino acid position 33 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.