Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000029206 | SCV000789897 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852577 | SCV002247481 | pathogenic | not provided | 2022-01-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 35553). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of congenital lipoid adrenal hyperplasia (PMID: 8948562, 28637490). This variant is present in population databases (rs387907235, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg193*) in the STAR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAR are known to be pathogenic (PMID: 8948562). |
Fulgent Genetics, |
RCV000029206 | SCV002811083 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2021-07-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000029206 | SCV000051852 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 1995-03-24 | no assertion criteria provided | literature only |