ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)

dbSNP: rs2091709505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001289556 SCV001477510 likely pathogenic Adrenoleukodystrophy 2020-12-01 criteria provided, single submitter clinical testing
Invitae RCV001289556 SCV001491969 uncertain significance Adrenoleukodystrophy 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 229 of the ABCD1 protein (p.Leu229Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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 (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. 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.
Genome-Nilou Lab RCV001289556 SCV002045736 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing

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