ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) (rs128624215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012048 SCV000932772 likely pathogenic Adrenoleukodystrophy 2018-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 389 of the ABCD1 protein (p.Arg389Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with adrenomyeloneuropathy (PMID: 22479560, 15811009), and has been reported to be de novo in at least one affected individual (PMID: 8566952). ClinVar contains an entry for this variant (Variation ID: 11296). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). The observation of one or more missense substitutions at this codon (p.Arg389Gly and p.Arg389His) in affected individuals suggests that this may be a clinically significant residue (PMID: 15811009, 7825602). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012048 SCV000032282 pathogenic Adrenoleukodystrophy 1996-02-01 no assertion criteria provided literature only

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