ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)

dbSNP: rs1603234759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813291 SCV000953647 pathogenic Adrenoleukodystrophy 2019-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser485*) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ABCD1-related disease. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). For these reasons, this variant has been classified as Pathogenic.

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