ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) (rs747099919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666647 SCV000790976 likely pathogenic Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV001237704 SCV001410477 pathogenic Peroxisome biogenesis disorder 3A 2019-11-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX12 gene (p.Trp263*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acids of the PEX12 protein. This variant is present in population databases (rs747099919, ExAC 0.01%). This variant has not been reported in the literature in individuals with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 551557). This variant disrupts the C-terminus of the PEX12 protein. Other variant(s) that disrupt this region (p.Leu297Thrfs*12) have been determined to be pathogenic (PMID: 9792857, 25287621, 26094004, 14571262, 21031596). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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