ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)

gnomAD frequency: 0.00001  dbSNP: rs747658523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535831 SCV001752433 pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-02 criteria provided, single submitter clinical testing
Palindrome, Gene Kavoshgaran Aria RCV004690112 SCV005186193 pathogenic Wolfram syndrome 1 2024-07-08 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004690112 SCV005399200 pathogenic Wolfram syndrome 1 2020-05-21 criteria provided, single submitter clinical testing A heterozygous nonsense variant was identified, NM_006005.3(WFS1):c.76C>T in exon 2 of 8 of the WFS1 gene. This nonsense variant is predicted to create a change of an arginine to a stop at amino acid position 26 of the protein; NP_005996.2(WFS1):p.(Arg26*), resulting in the loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. The variant has been previously reported in a patient with Wolfram syndrome (Hu, X. et al. (2018)), and as a VUS (deafnessvariationdatabase). Other variants predicted to cause NMD, have also been reported as pathogenic in individuals with Wolfram syndrome (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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