ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)

dbSNP: rs1557052397
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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 RCV000551222 SCV000630011 pathogenic Adrenoleukodystrophy 2017-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg182Profs*19) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with X-linked adrenoleukodystrophy (PMID: 11748843). This variant is also known as 544ins8bp in the literature. 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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