ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)

gnomAD frequency: 0.00001  dbSNP: rs1557052306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249219 SCV002517499 pathogenic Adrenoleukodystrophy 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002249219 SCV003445947 uncertain significance Adrenoleukodystrophy 2022-07-31 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.008%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Arg113 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11748843; Invitae). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1685492). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 113 of the ABCD1 protein (p.Arg113Cys).

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