Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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, |
RCV004690112 | SCV005186193 | pathogenic | Wolfram syndrome 1 | 2024-07-08 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
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 |