ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)

dbSNP: rs1557052555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627370 SCV000748363 pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing The Y281X nonsense variant in the ABCD1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y281X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, we interpret it to be a pathogenic variant.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001992 SCV001159805 pathogenic not specified 2018-07-03 criteria provided, single submitter clinical testing The ABCD1 c.843C>A; p.Tyr281Ter variant, to our knowledge, is not described in the medical literature but is reported as pathogenic in ClinVar (Variation ID: 523894). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in association with adrenoleukodystrophy and are considered pathogenic (see link to ALD database and references therein). Based on available information, the p.Tyr281Ter variant is considered pathogenic. References: Link to ALD database: https://adrenoleukodystrophy.info/mutations-and-variants-in-abcd1
Genome-Nilou Lab RCV001800831 SCV002045816 likely pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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