ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)

gnomAD frequency: 0.00052  dbSNP: rs201020526
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000532706 SCV000636797 benign Perlman syndrome 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000532706 SCV000895421 uncertain significance Perlman syndrome 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000532706 SCV003834688 uncertain significance Perlman syndrome 2022-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159799 SCV003870018 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.662C>G (p.T221R) alteration is located in exon 7 (coding exon 6) of the DIS3L2 gene. This alteration results from a C to G substitution at nucleotide position 662, causing the threonine (T) at amino acid position 221 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003314611 SCV004014248 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.