ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.749G>A (p.Trp250Ter) (rs104894087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046840 SCV001210758 pathogenic not provided 2019-02-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STAR gene (p.Trp250*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acids of the STAR protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another STAR variant in individuals affected with lipoid adrenal hyperplasia (PMID: 10323391, 20444910, 26523528), and has been shown to segregate with disease in a family (PMID: 23211570). ClinVar contains an entry for this variant (Variation ID: 8991). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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: 8948562, 22028173, 28467518, 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.
OMIM RCV000009554 SCV000029772 pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 1999-05-01 no assertion criteria provided literature only

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