ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs)

dbSNP: rs1569540883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732042 SCV000859918 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768619 SCV005380375 pathogenic Adrenoleukodystrophy 2024-08-22 criteria provided, single submitter clinical testing Variant summary: ABCD1 c.1076_1077delAG (p.Glu359ValfsX41) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 182608 control chromosomes. c.1076_1077delAG has been reported in the literature in at-least one individual affected with Adrenoleukodystrophy (example: Gomez Lira_1999). The following publication has been ascertained in the context of this evaluation (PMID: 10426149). ClinVar contains an entry for this variant (Variation ID: 596275). Based on the evidence outlined above, the variant was classified as pathogenic.

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