ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) (rs1569541088)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000710055 SCV000840436 pathogenic Adrenoleukodystrophy 2017-04-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710400 SCV000840612 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing
Mendelics RCV000710055 SCV001142056 pathogenic Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000710055 SCV001387375 pathogenic Adrenoleukodystrophy 2019-07-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 512 of the ABCD1 protein (p.Gly512Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be hemizygous in several individuals affected with adrenoleukodystrophy or primary adrenal insufficiency (PMID: 7581394, 23566833, 26523528, 12624723). ClinVar contains an entry for this variant (Variation ID: 585301). This variant has been reported to affect ABCD1 protein function (PMID: 11248239). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts the p.Gly512 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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