ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002695972 SCV002993851 pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing This variant, c.2455_2502del, results in the deletion of 16 amino acid(s) of the WFS1 protein (p.Gln819_Gly834del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the WFS1 protein in which other variant(s) (p.Leu829Pro) have been determined to be pathogenic (PMID: 31363008). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034374 SCV005667576 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-17 criteria provided, single submitter clinical testing

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