ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.723T>A (p.Ala241=)

dbSNP: rs1205501080
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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 RCV001947546 SCV002127526 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-07-11 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1367910). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 241 of the PEX13 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX13 protein.

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