ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.454dup (p.Ala152fs)

dbSNP: rs1555268564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487191 SCV000573441 likely pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004568212 SCV005052587 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 2023-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000487191 SCV005706426 pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala152Glyfs*13) 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: 423712). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001829384 SCV002091058 likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 2017-06-26 no assertion criteria provided clinical testing

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