ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.901-9_903del

dbSNP: rs2148391889
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379281 SCV001577054 likely pathogenic Adrenoleukodystrophy 2020-05-20 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (Invitae). This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 2 (c.901-9_903del) of the ABCD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). 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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