ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000705464 SCV000834462 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2022-07-06 criteria provided, single submitter clinical testing This variant, c.785_787del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the PEX12 protein (p.Asp262_Trp263delinsGly). This variant is present in population databases (rs759584047, gnomAD 0.007%). 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: 550582). 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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