ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)

dbSNP: rs1603231784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368455 SCV001564850 pathogenic Adrenoleukodystrophy 2025-01-20 criteria provided, single submitter clinical testing This variant, c.234_242del, results in the deletion of 3 amino acid(s) of the ABCD1 protein (p.Arg80_Leu82del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 10480364; internal data). ClinVar contains an entry for this variant (Variation ID: 1059218). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003136041 SCV003824417 likely pathogenic not provided 2021-12-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001368455 SCV004204323 likely pathogenic Adrenoleukodystrophy 2023-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001368455 SCV005423465 likely pathogenic Adrenoleukodystrophy 2024-10-03 criteria provided, single submitter clinical testing Variant summary: ABCD1 c.234_242delCCTGCGGCT (p.Arg80_Leu82del) results in an in-frame deletion that is predicted to remove three amino acids from the encoded protein. The variant was absent in 116577 control chromosomes (gnomAD). c.234_242delCCTGCGGCT (also described as del78-80LLR in the literature) has been reported in the literature in individuals affected with adrenoleukodystrophy (examples: Wichers_1999, Matteson_2021). These data indicate that the variant is likely associated with disease. In functional assays, the variant abolished peroxisomal targeting of the protein and resulted in the mislocalization of the protein to nucleus, cytosol and mitochondria (Landgraf_2003). ClinVar contains an entry for this variant (Variation ID: 1059218). The following publications have been ascertained in the context of this evaluation (PMID: 10480364, 33920672, 14533738). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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