ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)

dbSNP: rs1603233113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799162 SCV000938814 pathogenic Adrenoleukodystrophy 2025-01-15 criteria provided, single submitter clinical testing This variant, c.988_1005del, results in the deletion of 6 amino acid(s) of the ABCD1 protein (p.Leu330_Met335del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 33920672; internal data). ClinVar contains an entry for this variant (Variation ID: 645133). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the ABCD1 protein in which other variant(s) (p.Glu331Lys) have been determined to be pathogenic (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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