ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595253 SCV003493258 pathogenic Peroxisome biogenesis disorder 2B 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2177642). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is present in population databases (rs751148574, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Thr316Leufs*73) in the PEX5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX5 are known to be pathogenic (PMID: 18712838, 21031596).
Fulgent Genetics, Fulgent Genetics RCV005011022 SCV005629188 likely pathogenic Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 2024-06-17 criteria provided, single submitter clinical testing

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