ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)

dbSNP: rs128624224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633480 SCV000754712 pathogenic Adrenoleukodystrophy 2017-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Different missense substitutions at this codon (p.Arg518Gln, p.Arg518Trp, p.Arg518Pro) have been reported in several individuals affected with adrenoleukodystrophy (PMID: 21068741, 20195870, 8040304, 27084228). This suggests that the arginine residue is critical for ABCD1 protein function and that other missense substitutions at this position may also be pathogenic. 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. This variant has been reported in several individuals affected with adrenoleukodystrophy  (PMID: 14767898, 16415970). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 518 of the ABCD1 protein (p.Arg518Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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