ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1866-10G>A (rs398123108)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626568 SCV000747269 likely pathogenic Spastic gait; Spastic paraplegia 2017-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000414732 SCV000109790 pathogenic not provided 2014-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000414732 SCV000491030 pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing The c.1866-10 G>A splice site variant in the ABCD1 gene has previously been reported in association with X-linked adrenoleukodystrophy (ALD) in several unrelated families with phenotypes ranging from adrenomyeloneuropathy to childhood-onset cerebral ALD (Kemp et al., 1995; Kumar et al., 2011; Chu et al., 2015). Functional analysis of c.1866-10 G>A found that it results in the creation of an upstream splice acceptor site, leading to abnormal splicing (Kemp et al., 1995; Kumar et al., 2011). Therefore, we interpret c.1866-10 G>A to be a pathogenic variant.
OMIM RCV000077961 SCV000032281 pathogenic Adrenoleukodystrophy 1995-01-01 no assertion criteria provided literature only

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