ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) (rs1557055340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778893 SCV000915296 likely pathogenic Adrenoleukodystrophy 2017-10-20 criteria provided, single submitter clinical testing The ABCD1 c.1979G>A (p.Arg660Gln) missense variant has been reported in at least two studies and is found in a hemizygous state in a total of three individuals with adrenoleukodystrophy (Kumar et al. 2011; Shukla et al. 2011). All three individuals had high plasma very-long-chain fatty acids and onset of symptoms before age five. The p.Arg660Gln variant was absent from 120 controls and is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence, the p.Arg660Gln variant is classified as a likely pathogenic for X-linked adrenoleukodystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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