ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.107_122del (p.Pro36fs)

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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 RCV002876670 SCV003238751 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro36Hisfs*94) in the PUS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PUS1 are known to be pathogenic (PMID: 17056637, 19731322, 25058219, 26556812). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PUS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2032014). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464624 SCV004207184 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2024-03-16 criteria provided, single submitter clinical testing

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