Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693201 | SCV000821061 | pathogenic | Duane-radial ray syndrome | 2022-07-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571934). This variant has not been reported in the literature in individuals affected with SALL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser276Argfs*110) in the SALL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL4 are known to be pathogenic (PMID: 15342710, 16086360). |