ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) (rs387906494)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000516943 SCV000109780 pathogenic not provided 2015-06-10 criteria provided, single submitter clinical testing
Counsyl RCV000012055 SCV000486281 pathogenic Adrenoleukodystrophy 2016-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516943 SCV000612228 pathogenic not provided 2012-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000516943 SCV000617388 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The c.1415_1416delAG pathogenic variant in the ABCD1 gene has been previously reported in multiple unrelated individuals as a common variant associated with varying forms of X-linked adrenoleukodystrophy (Kemp et al., 2004; Feigenbaum et al., 1996; Kemp et al., 2001). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1415_1416delAG variant causes a frameshift starting with codon Glutamine 472, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 83 of the new reading frame, denoted p.Gln472ArgfsX83. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.1415_1416delAG as a pathogenic variant.
Invitae RCV000012055 SCV000629988 pathogenic Adrenoleukodystrophy 2018-08-27 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 5 of the ABCD1 mRNA (c.1415_1416delAG), causing a frameshift at codon 472. This creates a premature translational stop signal (p.Gln472Argfs*83) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic. This particular variant has been reported in the literature in several individuals affected with childhood or adult-onset adrenoleukodystrophy or adrenomyeloneuropathy (PMID: 8048932, 23154058, 23768953, 23566833, 22479560, 7849723). This variant is also referred to as 1801delAG in the literature. ClinVar contains an entry for this variant (Variation ID: 11303). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000516943 SCV000883323 pathogenic not provided 2017-11-09 criteria provided, single submitter clinical testing
OMIM RCV000012055 SCV000032289 pathogenic Adrenoleukodystrophy 1994-10-01 no assertion criteria provided literature only

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