ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) (rs782370364)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549873 SCV000629991 uncertain significance Adrenoleukodystrophy 2016-12-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 511 of the ABCD1 protein (p.Cys511Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with X-linked adrenoleukodystrophy (PMID: 17504626). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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