ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.70del (p.Leu24fs)

dbSNP: rs1557052171
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525103 SCV000630012 pathogenic Adrenoleukodystrophy 2017-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This sequence change deletes 1 nucleotide from exon 1 of the ABCD1 mRNA (c.70delC), causing a frameshift at codon 24. This creates a premature translational stop signal (p.Leu24Serfs*44) and is expected to result in an absent or disrupted protein product.

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