Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674438 | SCV000799776 | likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2018-05-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001238802 | SCV001411631 | pathogenic | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 558205). This premature translational stop signal has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 26827627). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs757367795, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gly232Glufs*89) in the STAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the STAR protein. |