ClinVar Miner

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

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Total submissions: 5
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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://; 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

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