ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.1123C>T (p.Gln375Ter)

dbSNP: rs2130231971
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 RCV002255055 SCV002526319 pathogenic not provided 2023-01-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne RCV003492745 SCV004239112 likely pathogenic Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome no assertion criteria provided clinical testing The de novo heterozygous c.1123C>T, (p.Gln375Ter) variant was absent from healthy population databases (gnomAD v.3.1.2). This variant likely results in reduced protein expression. This variant was found in a patient with a phenotype that is associated to PUF60-related disorders (neurodevelopmental disorder, short stature, skin abnormalities, craniofacial dysmorphia). A previous study has reported a similar phenotype with a frameshift-truncating variant located closely to this variant (Fennell et al., 2022).

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.