ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1015321377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195418 SCV001365769 likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 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.
Invitae RCV002560200 SCV002983528 pathogenic not provided 2022-03-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 930027). This variant has not been reported in the literature in individuals affected with APTX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg16*) in the APTX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APTX are known to be pathogenic (PMID: 15719174, 21465257, 23183622, 26285866).

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