ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)

dbSNP: rs765587923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003236334 SCV003934208 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2023-05-10 criteria provided, single submitter clinical testing Variant summary: APOA1BP c.128C>A (p.Ser43X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 3.3e-05 in 275032 control chromosomes. c.128C>A has been reported in the literature in individuals affected with Progressive myoclonus epilepsies (Courage_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 33798445). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneDx RCV004725695 SCV005332578 pathogenic not provided 2023-11-16 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: 33798445)

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