ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195418 SCV001365769 likely pathogenic Ataxia-oculomotor apraxia type 1 2020-03-31 criteria provided, single submitter clinical testing The p.Arg16X variant in APTX has not been previously reported in individuals with ataxia-oculomotor apraxia type 1 and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 16, which is predicted to lead to a truncated or absent protein. Loss of function of the APTX gene is an established disease mechanism in autosomal recessive ataxia-oculomotor apraxia type 1. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive ataxia with ataxia-oculomotor apraxia type 1. ACMG/AMP Criteria applied: PM2, PVS1.

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