ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1508del (p.Leu503fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003881697 SCV004697374 likely pathogenic Adrenoleukodystrophy criteria provided, single submitter clinical testing The frameshift variant c.1508del (p.Leu503ArgfsTer55) in the ABCD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Leucine 503, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 55 of the new reading frame. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing (Kim et al., 2019). For these reasons, this variant has been classified as Likely Pathogenic.

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