ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.422del (p.Leu141fs)

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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 RCV003531289 SCV004320253 pathogenic Pontocerebellar hypoplasia type 1B 2023-09-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EXOSC3-related conditions. For these reasons, this variant has been classified as Pathogenic. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu141Cysfs*62) in the EXOSC3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 135 amino acid(s) of the EXOSC3 protein.

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