Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193337 | SCV000249460 | likely pathogenic | Wolfram syndrome | 2015-06-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001853123 | SCV002231617 | pathogenic | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | This variant, c.1240_1242del, results in the deletion of 1 amino acid(s) of the WFS1 protein (p.Phe414del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs797046112, gnomAD 0.003%). This variant has been observed in individual(s) with autosomal recessive Wolfram syndrome (PMID: 12955714, 15605410, 23981289, 30232070). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 212611). For these reasons, this variant has been classified as Pathogenic. |