ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.604del (p.His202fs)

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
Ambry Genetics RCV002358256 SCV002654608 pathogenic Inborn genetic diseases 2019-03-05 criteria provided, single submitter clinical testing The c.604delC variant, located in coding exon 7 of the ATP13A2 gene, results from a deletion of one nucleotide at nucleotide position 604, causing a translational frameshift with a predicted alternate stop codon (p.H202Mfs*10). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098114 SCV003262305 pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This variant is present in population databases (rs758150853, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.His202Metfs*10) in the ATP13A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388).

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.