ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)

gnomAD frequency: 0.00002  dbSNP: rs201912053
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480449 SCV000569761 likely pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing Reported as a single heterozygous variant in a newborn undergoing exome sequencing through the BabySeq Project (Ceyhan-Birsoy et al., 2019); 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: 30609409)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616687 SCV000731377 likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2017-01-03 criteria provided, single submitter clinical testing The p.Arg42X (NM_175073.2 c.124C>T) variant in APTX has not been reported in ind ividuals with clinical features of ataxia with oculomotor apraxia type 1. This v ariant has been identified in 3/11578 of Latino chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201912053). This nonsense variant leads to a premature termination codon at position 42, which is predicted to lead to a truncated or absent protein. Biallelic loss of function of the APTX gene has been associated with ataxia with oculomotor apraxia type 1. In summary, although additional studies are required to fully establish a null effect on the protein, the p.Arg42X variant in APTX is likely pathogenic for ata xia with oculomotor apraxia type 1 in an autosomal recessive manner based upon p redicted impact on protein function.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000480449 SCV001762165 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000480449 SCV002498023 pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing APTX: PVS1, PM2, PM3:Supporting
Athena Diagnostics Inc RCV000480449 SCV004229969 likely pathogenic not provided 2023-09-14 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).

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