ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.772C>T (p.Gln258Ter) (rs104894085)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009550 SCV000792175 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2017-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000009550 SCV000893781 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000809822 SCV000950001 pathogenic not provided 2018-11-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STAR gene (p.Gln258*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acids of the STAR protein. This variant is present in population databases (rs104894085, ExAC 0.2%). This variant has been observed in many individuals and families affected with lipoid adrenal hyperplasia, and is considered a common cause of the disease (PMID: 8948562, 22028173, 28467518, 9097960). ClinVar contains an entry for this variant (Variation ID: 8987). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009550 SCV000029768 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2000-10-01 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000009550 SCV000267518 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2016-03-18 criteria provided, single submitter reference population

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