ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043120 SCV001206835 uncertain significance Adrenoleukodystrophy 2019-04-23 criteria provided, single submitter clinical testing This variant, c.823_831del, results in the deletion of 3 amino acid(s) of the ABCD1 protein (p.Arg275_Gly277del), but otherwise preserves the integrity of the reading frame. 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. This variant disrupts the p.Gly277 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8566952, 15811009, 20661612, 7581394). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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