ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1780+2T>G (rs1557054875)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548944 SCV000629994 pathogenic Adrenoleukodystrophy 2017-02-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the ABCD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with adrenoleukodystrophy (PMID: 21889498, 10480364). In one of these individuals, this variant was shown to arise de novo (PMID: 25835712). This variant is also known as T(+2)->G  in the literature. Experimental studies have shown that this variant causes aberrant splicing and results in the production of transcripts containing premature translational stop codons (PMID: 25835712). For these reasons, this variant has been classified as Pathogenic.

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