ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538578 SCV000629993 pathogenic Adrenoleukodystrophy 2019-11-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000675196 SCV000883324 pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198458 SCV001369392 pathogenic Cerebellar ataxia; Progressive spastic paraparesis 2019-07-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply. This variant was detected in heterozygous state.
Johns Hopkins Genomics,Johns Hopkins University RCV000538578 SCV001425396 pathogenic Adrenoleukodystrophy 2020-04-07 criteria provided, single submitter clinical testing
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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