ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.544C>T (p.Arg182Cys) (rs369232492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665326 SCV000789427 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV001211857 SCV001383419 pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 182 of the STAR protein (p.Arg182Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs369232492, ExAC 0.01%). This variant has been observed in individual(s) with lipoid adrenal hyperplasia (PMID: 16118340, 24790358, 24904850). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550550). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg182 amino acid residue in STAR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11509019, 15546900). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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