Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410363 | SCV000485844 | likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2016-11-11 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001218367 | SCV001390247 | pathogenic | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro210Argfs*26) in the STAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the STAR protein. This variant is present in population databases (rs771895449, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with lipoid adrenal hyperplasia (PMID: 15985476). ClinVar contains an entry for this variant (Variation ID: 370502). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects STAR function (PMID: 15985476). This variant disrupts a region of the STAR protein in which other variant(s) (p.Gln258*) have been determined to be pathogenic (PMID: 8948562, 9097960, 22028173, 28467518). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |