ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041034 SCV001204628 likely pathogenic Adrenoleukodystrophy 2019-02-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 343 of the ABCD1 protein (p.Gly343Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with X-linked adrenoleukodystrophy (PMID: 11748843, 15333254, Invitae). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Gly343 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 15643618, 16087056, 19660195), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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