ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)

dbSNP: rs1170974058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541276 SCV000629999 pathogenic Adrenoleukodystrophy 2022-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCD1 protein in which other variant(s) (p.His667Alafs*25) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 458639). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr666*) in the ABCD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 80 amino acid(s) of the ABCD1 protein.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000541276 SCV004099087 pathogenic Adrenoleukodystrophy 2023-08-30 criteria provided, single submitter clinical testing PVS1, PM1, PM2

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