ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)

dbSNP: rs863224169
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
GeneDx RCV000198298 SCV000252117 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing The c.1563 G>A nucleotide substitution in the PNPT1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.1563 G>A creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000198298 SCV002470257 likely benign not provided 2022-10-12 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.