ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.135del (p.Ser46fs) (rs193922393)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030462 SCV000053132 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Counsyl RCV000030462 SCV000798635 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000792849 SCV000932173 pathogenic not provided 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser46Alafs*63) in the STAR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs193922393, ExAC 0.002%). This variant has been observed in an individual affected with congenital lipoid adrenal hyperplasia (PMID:  9141542). This variant is known as 261delT in the literature. ClinVar contains an entry for this variant (Variation ID: 36782). Loss-of-function variants in STAR are known to be pathogenic (PMID: 8948562). For these reasons, this variant has been classified as Pathogenic.

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