ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.551del (p.Cys184fs)

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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 RCV003530937 SCV004294310 pathogenic Pontocerebellar hypoplasia type 1B 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys184Leufs*19) in the EXOSC3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 92 amino acid(s) of the EXOSC3 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with pontocerebellar hypoplasia (PMID: 23284067). 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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