ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) (rs11146842)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723904 SCV000202108 pathogenic not provided 2015-04-23 criteria provided, single submitter clinical testing
Invitae RCV000012064 SCV000754723 pathogenic Adrenoleukodystrophy 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 617 of the ABCD1 protein (p.Arg617His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with X-linked adrenoleukodystrophy (ALD) (PMID: 21700483) as well as in an individual affected with adrenomyeloneuropathy (AMN) (PMID: 8040304). This variant has been reported in several additional individuals with AMN (PMID: 7581394, 15800013) and it has been reported in many individuals with X-linked ALD (PMID: 21068741, 21700483, 26454440). This variant is also known as c.2236G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 11312). Experimental studies have shown that this missense results in a lack of protein expression in transfected fibroblast cells (PMID: 17542813, 9425230) as well as in patient derived fibroblast cells (PMID: 17542813, 7668254). For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV000012064 SCV000886725 pathogenic Adrenoleukodystrophy 2019-10-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000012064 SCV001428449 pathogenic Adrenoleukodystrophy 2019-04-10 criteria provided, single submitter clinical testing This variant was identified as hemizygous
OMIM RCV000012064 SCV000032298 pathogenic Adrenoleukodystrophy 1994-08-01 no assertion criteria provided literature only

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