ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) (rs1603231784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812366 SCV000952677 pathogenic Adrenoleukodystrophy 2019-12-11 criteria provided, single submitter clinical testing This variant, c.234_242dup, results in the insertion of 3 amino acid(s) to the ABCD1 protein (p.Arg80_Leu82dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with X-ALD (PMID:16087056, 10227685, Invitae). It has also been observed to segregate with disease in related individuals (Invitae). This variant is also known as R80-L81insPAA or 80_81insLRL in the literature. For these reasons, this variant has been classified as Pathogenic.

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