ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.545G>A (p.Arg182His) (rs104894086)

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Total submissions: 4
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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 Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-01-18 criteria provided, single submitter clinical testing
Invitae RCV000518086 SCV000950951 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 182 of the STAR protein (p.Arg182His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with congenital lipoid adrenal hyperplasia and also segregates with disease in families (PMID: 11509019, 15546900). ClinVar contains an entry for this variant (Variation ID: 8995). This variant has been reported to affect STAR protein function (PMID: 15546900). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009558 SCV000029776 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2005-02-01 no assertion criteria provided literature only

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