ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) (rs128624219)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012052 SCV000947088 pathogenic Adrenoleukodystrophy 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 401 of the ABCD1 protein (p.Arg401Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with X-linked adrenoleukodystrophy (PMID: 8566952, 15811009, 21966424, 23419472 26388597). This variant is also known as G1588A in the literature. ClinVar contains an entry for this variant (Variation ID: 11300). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg401 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 10190819, 22479560), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV000012052 SCV000992347 pathogenic Adrenoleukodystrophy 2019-04-17 criteria provided, single submitter clinical testing
OMIM RCV000012052 SCV000032286 pathogenic Adrenoleukodystrophy 1994-10-01 no assertion criteria provided literature only

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