ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.180G>A (p.Gln60=)

dbSNP: rs1296103687
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
Neuberg Centre For Genomic Medicine, NCGM RCV003448722 SCV004176374 uncertain significance Congenital myotonia, autosomal recessive form 2023-02-14 criteria provided, single submitter clinical testing The splice region synonymous c.180G>A (p.Gln60) variant in CLCN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.180G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The splice AI predicts a donor loss (0.11), therefore functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.