ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)

dbSNP: rs2091707324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001252970 SCV001428450 pathogenic Adrenoleukodystrophy 2019-05-06 criteria provided, single submitter clinical testing This variant was identified as hemizygous
3billion RCV001252970 SCV003841267 uncertain significance Adrenoleukodystrophy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 0.98). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with ABCD1 related disorder (ClinVar ID: VCV000975856 / PMID: 12402273). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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