Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670436 | SCV000795288 | likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2017-11-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001868243 | SCV002121496 | pathogenic | not provided | 2021-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the STAR protein. Other variant(s) that result in a similarly extended protein product (p.Leu271Cysfs*50) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with STAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 554752). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the STAR gene (p.Val226Glyfs*95). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the STAR protein and extend the protein by 34 additional amino acid residues. |