ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1394-2_1404del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002875576 SCV003228967 likely pathogenic Adrenoleukodystrophy 2023-10-13 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 5 of the ABCD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of X-linked adrenoleukodystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 2022340). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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