ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)

dbSNP: rs2148397896
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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 RCV001887390 SCV002159181 uncertain significance Adrenoleukodystrophy 2023-01-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1396317). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 551 of the ABCD1 protein (p.Gly551Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adrenomyeloneuropathy (Invitae). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. 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.

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