ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.701_702dup (p.Ser235fs)

dbSNP: rs751815828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943165 SCV002185421 pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs751815828, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with STAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1412308). This variant disrupts a region of the STAR protein in which other variant(s) (p.Arg272Cys) have been determined to be pathogenic (PMID: 28546232, 30476142). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This sequence change results in a frameshift in the STAR gene (p.Ser235Profs*87). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the STAR protein and extend the protein by 35 additional amino acid residues.

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