ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)

dbSNP: rs1569541122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691696 SCV000819486 uncertain significance Adrenoleukodystrophy 2020-01-14 criteria provided, single submitter clinical testing 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ABCD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 588 of the ABCD1 protein (p.Ile588Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine.
Athena Diagnostics Inc RCV001288420 SCV001475503 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000691696 SCV002045795 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000691696 SCV001749740 not provided Adrenoleukodystrophy no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-13-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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