ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.419_422del (p.Ser140fs)

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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 RCV005181907 SCV005816767 pathogenic Pontocerebellar hypoplasia type 1B 2024-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser140Cysfs*62) in the EXOSC3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 136 amino acid(s) of the EXOSC3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EXOSC3-related conditions. This variant disrupts a region of the EXOSC3 protein in which other variant(s) (p.Trp238Arg) have been determined to be pathogenic (PMID: 22544365, 27777260, 28053271). 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.

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