ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) (rs397517197)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038658 SCV000062336 benign not specified 2015-06-19 criteria provided, single submitter clinical testing p.Asp797dup in exon 8 of WFS1: This variant is not expected to have clinical sig nificance it has been identified in 0.7% (124/16292) of South Asian chromosomes, with two homozygote individuals, by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs397517197).
GeneDx RCV000658992 SCV000583341 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing The c.2390_2392dupACG variant has been published in a patient with early-onset central diabetes insipidus who also harbored a second variant in the WFS1 gene. This individual was not reported to have additional signs of Wolfram syndrome, even after 10 years of follow-up (Perrotta et al., 2015). The c.2390_2392dupACG variant was also reported in a patient with Wolfram syndrome who also harbored a nonsense variant and a frameshift variant (Colosimo et al., 2003). Targeted testing of the mother found that c.2390_2392dupACG was inherited on the same allele as the nonsense variant (Colosimo et al. 2003). The c.2390_2392dupACG variant is observed in 262/30728 (0.84%) alleles from individuals of South Asian background, including two homozygotes (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2390_2392dupACG variant results in the addition of a single Aspartic acid residue at amino acid position 797, denoted p.Asp797dup. Other in-frame deletions/insertions/duplications have also been reported in association with Wolfram syndrome and other WFS1-related disorders in the Human Gene Mutation Database (Stenson et al., 2014). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000038658 SCV000605611 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658992 SCV000780795 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000658992 SCV001018435 benign not provided 2020-12-05 criteria provided, single submitter clinical testing

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.