ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.848A>G (p.His283Arg)

dbSNP: rs2148389929
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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 RCV001958819 SCV002244744 pathogenic Adrenoleukodystrophy 2022-07-26 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 20376793, 23469258). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.His283 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16415970, 21300044). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 1459053). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 283 of the ABCD1 protein (p.His283Arg).

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