ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) (rs562890289)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420140 SCV000533194 likely pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing The Q483X variant in the SPG7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q483X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q483X as a likely pathogenic variant.
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515851 SCV000574454 pathogenic Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research

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