ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) (rs780020801)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000855407 SCV000998469 pathogenic Meckel syndrome type 7 2019-08-16 criteria provided, single submitter clinical testing InterpretationThis NPHP3 variant was previously identified in trans with a second likely disease-causing variant in an infant with Meckel Gruber syndrome. This variant (rs780020801) is rare (<0.1%) in a large population dataset (gnomAD: 2/251180 total alleles; 0.0007962%; no homozygotes). This nonsense variant results in a premature stop codon in exon 25 of 27, likely leading to nonsense-mediated decay and lack of protein production. This variant is classified as pathogenic.

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.