ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) (rs1569540693)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700171 SCV000828916 pathogenic Adrenoleukodystrophy 2018-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 152 of the ABCD1 protein (p.Arg152Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with adrenoleukodystrophy (PMID: 7581394, 8651290, 14586615, 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. Variants that disrupt the p.Arg152 amino acid residue in ABCD1 have been observed in affected individuals (PMID: 10737980, 7825602, 7581394, 8651290, 14586615). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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