ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)

dbSNP: rs1458853023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669505 SCV000794262 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861777 SCV002215169 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2022-06-05 criteria provided, single submitter clinical testing This variant, c.392_400del, results in the deletion of 3 amino acid(s) of the PEX12 protein (p.Glu131_Leu133del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD no frequency), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 553959). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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