ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.458C>T (p.Ala153Val)

dbSNP: rs2104803452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869876 SCV002114437 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX13-related conditions. 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. 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 153 of the PEX13 protein (p.Ala153Val).

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