ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) (rs759821636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000316448 SCV000335786 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV001063738 SCV001228598 uncertain significance Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX26 gene (p.Tyr299Leufs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the PEX26 protein. This variant is present in population databases (rs759821636, ExAC 0.2%). This variant has not been reported in the literature in individuals with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 283588). 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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