ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.812_814del (p.Phe271del) (rs587782991)

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 RCV000480536 SCV000568805 pathogenic not provided 2017-03-07 criteria provided, single submitter clinical testing The c.812_814delTCT variant in the PURA gene has been reported previously as heterozygous and de novo in an individual with hypotonia, feeding and respiratory difficulties, seizures, and psychomotor delay (Lalani et al., 2014). The c.812_814delTCT variant results in an in-frame 3 base pair deletion and is predicted to cause loss of a Phenylalanine residue at position 271 in the protein, noted as p.Phe271del. The c.812_814delTCT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Phenylalanine residue at position 271 is conserved across species. We interpret c.812_814delTCT as a pathogenic variant.
Centogene AG - the Rare Disease Company RCV000149569 SCV001426617 pathogenic Mental retardation, autosomal dominant 31 criteria provided, single submitter clinical testing
Whole genome laboratory; Baylor College of Medicine RCV000144521 SCV000189113 pathogenic Global developmental delay; Seizures; Delayed speech and language development; Intellectual disability; Neonatal hypotonia 2014-09-15 no assertion criteria provided clinical testing
OMIM RCV000149569 SCV000196545 pathogenic Mental retardation, autosomal dominant 31 2014-11-06 no assertion criteria provided literature only
GeneReviews RCV000149569 SCV000778190 pathogenic Mental retardation, autosomal dominant 31 2017-01-27 no assertion criteria provided literature only

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.