ClinVar Miner

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

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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 uncertain significance Adrenoleukodystrophy 2018-12-20 criteria provided, single submitter clinical testing This variant, c.234_242dupCCTGCGGCT, 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 individuals with clinical features of X-linked adrenoleukodystrophy (PMID:16087056, 10227685). This variant is also known as R80-L81insPAA or 80_81insLRL in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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