ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)

gnomAD frequency: 0.00001  dbSNP: rs2091712106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236161 SCV001408874 uncertain significance Adrenoleukodystrophy 2023-07-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 962323). 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. This variant disrupts the p.Ala294 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 8651290), which suggests that this may be a clinically significant amino acid residue. 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 missense change has been observed in individual(s) with adrenomyeloneuropathy (PMID: 16018167). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 294 of the ABCD1 protein (p.Ala294Val). This variant is not present in population databases (gnomAD no frequency).

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