ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.545G>A (p.Arg182His)

dbSNP: rs104894086
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Total submissions: 7
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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, Revvity 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, Seattle Children's Hospital 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, Inc. RCV000009558 SCV001460463 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2020-09-16 no assertion criteria provided clinical testing

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