ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038533 SCV001202007 uncertain significance Adrenoleukodystrophy 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 544 of the ABCD1 protein (p.Gln544Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 9212180, 10190819). This variant has been reported to have conflicting or insufficient data to determine the effect on ABCD1 protein function (PMID: 17542813, 9212180). 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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