ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.695del (p.Gly232fs) (rs757367795)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674438 SCV000799776 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-05-06 criteria provided, single submitter clinical testing
Invitae RCV001238802 SCV001411631 pathogenic not provided 2019-10-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STAR gene (p.Gly232Glufs*89). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acids of the STAR protein. This variant is present in population databases (rs757367795, ExAC 0.009%). This variant has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 26827627). 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: 558205). This variant disrupts the C-terminus of the STAR protein. Other variant(s) that disrupt this region (p.Gln258*) have been determined to be pathogenic (PMID: 28467518, 8948562, 22028173, 9097960). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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