ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr)

dbSNP: rs1557054740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518771 SCV000612230 uncertain significance not specified 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV003512051 SCV004298780 uncertain significance Adrenoleukodystrophy 2023-06-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 446780). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 505 of the ABCD1 protein (p.Ile505Thr).

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