ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.853G>C (p.Ala285Pro)

dbSNP: rs2104812755
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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 RCV001897129 SCV002149059 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-03-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 285 of the PEX13 protein (p.Ala285Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant has not been reported in the literature in individuals 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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