ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) (rs764657253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674189 SCV000799481 uncertain significance Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV001239384 SCV001412257 uncertain significance Peroxisome biogenesis disorder 3A 2019-10-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX12 gene (p.Phe330Serfs*23). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the PEX12 protein. This variant is present in population databases (rs764657253, 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: 557980). 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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