ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)

gnomAD frequency: 0.00131  dbSNP: rs34928857
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199246 SCV000252109 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing Observed with a second PNPT1 variant on the opposite allele (in trans) in a patient with arm and leg weakness, developmental delay, scoliosis, epilepsy, and sensory axonal polyneuropathy in published literature (Panwala et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35303589)
Fulgent Genetics, Fulgent Genetics RCV000765691 SCV000897033 uncertain significance Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000199246 SCV001084377 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336837 SCV001530339 uncertain significance Combined oxidative phosphorylation defect type 13 2018-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004541264 SCV004773193 likely benign PNPT1-related disorder 2020-12-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.