ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062117 SCV001226895 uncertain significance Adrenoleukodystrophy 2019-11-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ABCD1 gene (p.Gln741*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the ABCD1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ABCD1-related conditions. 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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