ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)

gnomAD frequency: 0.00001  dbSNP: rs1569541033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779678 SCV000916400 uncertain significance not specified 2018-06-11 criteria provided, single submitter clinical testing Variant summary: ABCD1 c.1415A>G (p.Gln472Arg) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 177773 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1415A>G in individuals affected with Adrenoleukodystrophy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001825520 SCV002110746 uncertain significance Adrenoleukodystrophy 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 472 of the ABCD1 protein (p.Gln472Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 632622). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001825520 SCV002084640 uncertain significance Adrenoleukodystrophy 2021-03-24 no assertion criteria provided clinical testing

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