Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817614 | SCV000958183 | pathogenic | not provided | 2022-11-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs756611351, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Pro2823Argfs*14) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). ClinVar contains an entry for this variant (Variation ID: 660423). For these reasons, this variant has been classified as Pathogenic. |