ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.408del (p.Gln136fs)

dbSNP: rs1603231897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813592 SCV000953958 pathogenic Adrenoleukodystrophy 2019-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant has been observed in an individual affected with an ABCD1-related disorder (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln136Hisfs*62) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product.

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