ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)

dbSNP: rs868977355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633479 SCV000754711 uncertain significance Adrenoleukodystrophy 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 80 of the ABCD1 protein (p.Arg80Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adrenoleukodystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 528336). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCD1 protein function. 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.
Natera, Inc. RCV000633479 SCV002084595 uncertain significance Adrenoleukodystrophy 2019-10-28 no assertion criteria provided clinical testing

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