Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Endocrinology Laboratory, |
RCV001667855 | SCV001890915 | pathogenic | Wolfram syndrome 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002496000 | SCV002795675 | likely pathogenic | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV005094881 | SCV005834936 | pathogenic | not provided | 2024-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp129*) in the WFS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WFS1 are known to be pathogenic (PMID: 12955714). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 15277431, 35018440). ClinVar contains an entry for this variant (Variation ID: 1264331). For these reasons, this variant has been classified as Pathogenic. |