ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) (rs1603236086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000850157 SCV000992345 uncertain significance Adrenoleukodystrophy 2019-03-28 criteria provided, single submitter clinical testing
Invitae RCV000850157 SCV001413419 uncertain significance Adrenoleukodystrophy 2019-02-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 668 of the ABCD1 protein (p.Thr668Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ABCD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Thr668 amino acid residue in ABCD1. Other variant(s) that disrupt this residue (p.Thr668Ile) have been observed in individuals with ABCD1-related conditions (PMID: 11748843), which suggests that this may be a clinically significant amino acid residue. 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.

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