ClinVar Miner

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

dbSNP: rs128624215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000012048 SCV000932772 pathogenic Adrenoleukodystrophy 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 389 of the ABCD1 protein (p.Arg389Gly). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 11296). This missense change has been observed in individual(s) with adrenomyeloneuropathy (PMID: 8566952, 15811009, 22479560; Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg389 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 7825602, 15811009), which suggests that this may be a clinically significant amino acid residue. 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").
Revvity Omics, Revvity RCV003488335 SCV004238662 pathogenic not provided 2023-05-29 criteria provided, single submitter clinical testing
OMIM RCV000012048 SCV000032282 pathogenic Adrenoleukodystrophy 1996-02-01 no assertion criteria provided literature only

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