ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003150900 SCV003839106 likely pathogenic Adrenoleukodystrophy 2022-12-21 criteria provided, single submitter clinical testing This ABCD1 in-frame deletion has been reported in the literature as a de novo occurrence in a female carrier for X-linked adrenoleukodystrophy. The variant is absent from a large population dataset and has not been reported in ClinVar. The amino acids between position 159 and 166 are evolutionarily conserved across many of the species assessed. We consider c.476_499del; p.Ala159_Leu166del in ABCD1 to be likely pathogenic.

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