ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)

dbSNP: rs1159943880
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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 RCV000633481 SCV000754713 pathogenic Adrenoleukodystrophy 2019-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. This variant has been observed in individual(s) with adrenoleukodystrophy (PMID: 21700483). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 528338). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 523 of the ABCD1 protein (p.Leu523Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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