ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer)

dbSNP: rs2124651144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936750 SCV002226035 uncertain significance Peroxisome biogenesis disorder, complementation group K 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser374*) in the PEX14 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the PEX14 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX14-related conditions. 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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