ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.36del (p.Asn13fs)

dbSNP: rs1603231653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812852 SCV000953180 pathogenic Adrenoleukodystrophy 2018-08-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ABCD1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asn13Thrfs*3) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product.

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