ClinVar Miner

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

dbSNP: 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 2023-06-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 458636). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in aberrant splicing and introduces a premature termination codon (PMID: 25835712). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is also known as T(+2)->G. Disruption of this splice site has been observed in individual(s) with adrenoleukodystrophy (PMID: 10480364, 21889498, 25835712). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 of the ABCD1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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