ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])

dbSNP: rs797046113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194382 SCV000249461 likely pathogenic Wolfram syndrome 2015-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001762414 SCV002008634 likely pathogenic not provided 2021-01-22 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 20738327, 15605410, 23981289)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824671 SCV002074344 pathogenic Wolfram syndrome 1 2022-01-19 criteria provided, single submitter clinical testing Variant summary: WFS1 c.1698_1703delCCTCTT (p.Leu567_Phe568del) results in an in-frame deletion that is predicted to remove two amino acids from the encoded protein. The variant allele was found at a frequency of 4e-05 in 250888 control chromosomes (gnomAD). c.1698_1703delCCTCTT has been reported in the literature in individuals affected with Wolfram Syndrome 1 (examples: Astuti_2017 and Giuliano_2004). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV001762414 SCV002163558 pathogenic not provided 2021-10-24 criteria provided, single submitter clinical testing This variant, c.1698_1703del, results in the deletion of 2 amino acid(s) of the WFS1 protein (p.Leu567_Phe568del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770916976, ExAC 0.006%). This variant has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 10521293, 15605410, 23981289; Invitae). This variant is also known as c.1689_1694delCTTCTT. ClinVar contains an entry for this variant (Variation ID: 212612). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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