ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.55C>T (p.Arg19Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003727125 SCV004535560 pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of PUS3-related conditions (PMID: 31444731). This variant is present in population databases (rs747920338, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg19*) in the PUS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PUS3 are known to be pathogenic (PMID: 27055666, 31444731, 34415064).
GeneDx RCV003727125 SCV005414826 pathogenic not provided 2024-05-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31444731)

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