ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.811del (p.Leu271fs) (rs1350908961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672388 SCV000797487 likely pathogenic Cholesterol monooxygenase (side-chain cleaving) deficiency 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV001057126 SCV001221602 pathogenic not provided 2019-01-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STAR gene (p.Leu271Cysfs*50). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the STAR protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with STAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 556387). 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 (c.834_844del) have been determined to be pathogenic (PMID: 23211570). 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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