ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.559G>A (p.Val187Met) (rs104894089)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009559 SCV000793137 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000811531 SCV000951799 pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 187 of the STAR protein (p.Val187Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with lipoid adrenal hyperplasia (PMID: 16968793, 21647419, 28467518). ClinVar contains an entry for this variant (Variation ID: 8996). This variant has been reported to affect STAR protein function (PMID: 16968793). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009559 SCV000029777 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2006-12-01 no assertion criteria provided literature only

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