Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518086 | SCV000615515 | pathogenic | not provided | 2017-08-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000009558 | SCV000797248 | likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2018-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000518086 | SCV000950951 | pathogenic | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 182 of the STAR protein (p.Arg182His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital lipoid adrenal hyperplasia (PMID: 11509019, 15546900). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8995). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STAR protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects STAR function (PMID: 15546900). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000009558 | SCV002021970 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV000518086 | SCV002525604 | pathogenic | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | This is a recurrent pathogenic variant that has previously been reported in the homozygous state in multiple unrelated individuals with STaR deficiency (PMID: 15546900, PMID: 11509019, PMID: 26523528, PMID: 28870780). The c.545G>A variant is predicted to substitute the arginine at position 182 with histidine. The Arg182 is a highly conserved amino acid position within a critical functional domain (PMID: 11509019). Experimental studies have demonstrated that the p.Arg182His change impairs protein function (PMID: 15546900). |
OMIM | RCV000009558 | SCV000029776 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2005-02-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000009558 | SCV001460463 | pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency | 2020-09-16 | no assertion criteria provided | clinical testing |