ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) (rs988988279)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321840 SCV001512690 uncertain significance Peroxisome biogenesis disorder 9B 2020-03-05 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the PEX7 mRNA. It is expected to extend the length of the PEX7 protein by 13 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX7-related conditions. 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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