ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) (rs1412916235)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665716 SCV000789880 uncertain significance Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-02-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728569 SCV000856161 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV001035823 SCV001199161 uncertain significance Peroxisome biogenesis disorder 3A 2019-12-30 criteria provided, single submitter clinical testing This variant, c.182_184dup, results in the insertion of 1 amino acid(s) to the PEX12 protein (p.Glu61_Ile62insLys), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 550849). 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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