ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) (rs1557054873)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000675196 SCV000883324 pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV000538578 SCV000629993 pathogenic Adrenoleukodystrophy 2018-06-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 591 of the ABCD1 protein (p.Arg591Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with X-linked cerebellar adrenoleukodystrophy and adrenomyeloneuropathy (PMID: 23566833, 22280810, 19129531, 7668254, 7581394). Experimental studies in fibroblasts carrying this variant showed a reduction in very long chain fatty acid (VLCFA) beta-oxidation (PMID: 9425230). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675196 SCV000800838 pathogenic not provided 2017-01-04 no assertion criteria provided clinical testing

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