ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.901-2A>G

dbSNP: rs2148391907
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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 RCV001885173 SCV002229225 pathogenic Adrenoleukodystrophy 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1323832). This sequence change affects an acceptor splice site in intron 1 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). Disruption of this splice site has been observed in individual(s) with adrenoleukodystrophy (PMID: 16996397). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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