ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) (rs759584047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665361 SCV000789472 uncertain significance Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000705464 SCV000834462 uncertain significance Peroxisome biogenesis disorder 3A 2018-04-25 criteria provided, single submitter clinical testing This variant, c.785_787delACT, results in the deletion of two amino acids and insertion of one amino acid in the PEX12 protein (p.Asp262_Trp263delinsGly), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs759584047, ExAC 0.01%). This variant has not been reported in the literature in individuals with PEX12-related disease. Experimental studies and prediction algorithms are not available for this variant, 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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