ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.845A>G (p.Asp282Gly)

dbSNP: rs1573560642
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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 RCV001062460 SCV001227262 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-12-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 282 of the PEX13 protein (p.Asp282Gly). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 856898). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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