ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) (rs4010613)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012065 SCV000963499 pathogenic Adrenoleukodystrophy 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 617 of the ABCD1 protein (p.Arg617Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with X-linked adrenoleukodystrophy and Addison's disease (PMID: 7825602, 8040304, 8566952, 15811009, 16087056, 17029209). ClinVar contains an entry for this variant (Variation ID: 11313). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg617 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 7581394, 8040304, 9425230, 17542813, 21068741, 21700483), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV000012065 SCV001167298 pathogenic Adrenoleukodystrophy 2019-11-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093003 SCV001249772 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
OMIM RCV000012065 SCV000032299 pathogenic Adrenoleukodystrophy 1994-08-01 no assertion criteria provided literature only

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