ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)

dbSNP: rs2148389516
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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 RCV001951233 SCV002245574 pathogenic Adrenoleukodystrophy 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 211 of the ABCD1 protein (p.Leu211Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ABCD1-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. 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. This variant disrupts the p.Leu211 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 8566952, 8888042, 32003821; Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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