ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) (rs1557054745)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633490 SCV000754724 pathogenic Adrenoleukodystrophy 2017-10-07 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 511 of the ABCD1 protein (p.Cys511Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adrenoleukodystrophy (http://www.x-ald.nl/) and has been reported to be de novo in an individual affected with elevated very long chain fatty acids (Invitae). 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 and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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