ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.562C>T (p.Arg188Cys) (rs104894090)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009560 SCV000794460 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV000812202 SCV000952507 pathogenic not provided 2018-10-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 188 of the STAR protein (p.Arg188Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs104894090, ExAC 0.02%). This variant has been observed in individuals with nonclassic lipoid congenital adrenal hyperplasia or primary adrenal insufficiency (PMID: 20444910, 26650942, 28637490). It also has been observed to segregate with this disease in in several families (PMID: 16968793, 19773404, 29576868). ClinVar contains an entry for this variant (Variation ID: 8997). Experimental studies have shown that this missense change disrupts STAR protein function (PMID: 16968793, 20444910). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009560 SCV000029778 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2006-12-01 no assertion criteria provided literature only

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