ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.195CCT[1] (p.Leu67del)

dbSNP: rs753865718
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000700373 SCV000829125 uncertain significance Brody myopathy 2022-08-06 criteria provided, single submitter clinical testing This variant, c.198_200del, results in the deletion of 1 amino acid(s) of the ATP2A1 protein (p.Leu67del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753865718, gnomAD 0.02%). This variant has been observed in individuals with Brody disease (PMID: 20142766, 32040565). This variant is also known as Leu65del. ClinVar contains an entry for this variant (Variation ID: 577576). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ATP2A1 function (PMID: 20142766). 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.
CeGaT Center for Human Genetics Tuebingen RCV001726309 SCV001961586 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing

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.