ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)

dbSNP: rs2148395475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938824 SCV002202389 uncertain significance Adrenoleukodystrophy 2021-12-02 criteria provided, single submitter clinical testing This missense change has been observed to be homozygous or hemizygous in an individual who did not have the expected clinical features for that genetic result (Invitae). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 398 of the ABCD1 protein (p.Ala398Val). 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. 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.
Revvity Omics, Revvity RCV003136328 SCV003824434 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing

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