ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.640G>T (p.Glu214Ter) (rs1581036558)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV000786859 SCV000925239 likely pathogenic Apnea; Generalized hypotonia; Limb dystonia 2019-06-28 criteria provided, single submitter clinical testing This variant introduces a premature stop codon at amino acid position Glu214, which may result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant is not reported in dbSNP, gnomAD, 1000 Genomes, or NHLI Exome Sequencing Project (ESP). Pathogenic nonsense mutations in the PURA gene have been previously reported (ClinVar). Almost all pathogenic variants thus far reported are de novo (Reijnders et al., 2017, PMID: 28448108).
Institute of Human Genetics, Klinikum rechts der Isar RCV000995624 SCV001149904 pathogenic Mental retardation, autosomal dominant 31 2018-03-13 no assertion criteria provided clinical testing

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