Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001972770 | SCV002245787 | pathogenic | not provided | 2021-12-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs763677869, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Val412Serfs*29) in the WFS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 479 amino acid(s) of the WFS1 protein. This premature translational stop signal has been observed in individual(s) with Wolfram syndrome (PMID: 19042979). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002492133 | SCV002778267 | pathogenic | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2024-06-05 | criteria provided, single submitter | clinical testing |