ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)

gnomAD frequency: 0.00001  dbSNP: rs754890130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277315 SCV001214795 uncertain significance Zellweger spectrum disorders 2022-07-19 criteria provided, single submitter clinical testing This variant, c.706_720del, results in the deletion of 5 amino acid(s) of the PEX1 protein (p.Pro236_Ser240del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754890130, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 847180). 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.
GeneDx RCV001772254 SCV002002455 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001772254 SCV004224046 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing PM2, PM4
Natera, Inc. RCV001277315 SCV001464257 uncertain significance Zellweger spectrum disorders 2019-06-13 no assertion criteria provided clinical testing

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