ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.913+5T>G

gnomAD frequency: 0.00001  dbSNP: rs1380556679
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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 RCV001876384 SCV002121761 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-06-07 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the PEX13 gene. It does not directly change the encoded amino acid sequence of the PEX13 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX13-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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