ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)

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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 RCV001973074 SCV002250602 likely pathogenic Adrenoleukodystrophy 2023-05-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 516 of the ABCD1 protein (p.Leu516Pro). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 21889498, 34826210, 35053399; external communication). ClinVar contains an entry for this variant (Variation ID: 1469653). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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