ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs1201215154
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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 RCV001904838 SCV002121087 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-02-10 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PEX13 mRNA. The next in-frame methionine is located at codon 40. This variant is present in population databases (no rsID available, gnomAD 0.002%). Disruption of the initiator codon has been observed in individual(s) with clinical features of Zellweger spectrum disorder (ZSD) (PMID: 34055681). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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