Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001875777 | SCV002237677 | pathogenic | not provided | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu273*) in the WFS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 618 amino acid(s) of the WFS1 protein. This variant is present in population databases (rs142428158, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Wolfram syndrome (PMID: 10521293, 23981289). ClinVar contains an entry for this variant (Variation ID: 918066). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002497609 | SCV002810296 | pathogenic | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing | |
Constantin Polychronakos Laboratory, |
RCV001175321 | SCV001250636 | pathogenic | Diabetes mellitus | no assertion criteria provided | research | PVS1 PS1 PM2 PP3 | |
Prevention |
RCV004738178 | SCV005362491 | pathogenic | WFS1-related disorder | 2024-09-12 | no assertion criteria provided | clinical testing | The WFS1 c.817G>T variant is predicted to result in premature protein termination (p.Glu273*). This variant has been reported as pathogenic in three patients with autosomal recessive Wolfram syndrome (Hardy et al. 1999. PubMed ID: 10521293; Marshall et al. 2013. PubMed ID: 23981289) and has also been reported in the heterozygous state in a patient with type 1 diabetes (Marchand et al. 2021. PubMed ID: 33538814). This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in WFS1 are expected to be pathogenic. This variant is interpreted as pathogenic. |