ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1287del (p.Trp430fs)

gnomAD frequency: 0.00001  dbSNP: rs1258472160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514917 SCV000610968 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231241 SCV001403754 pathogenic Peroxisome biogenesis disorder 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp430Glyfs*20) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 10408779, 21031596, 31831025). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 446026). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004551655 SCV004111313 pathogenic PEX6-related disorder 2023-08-13 criteria provided, single submitter clinical testing The PEX6 c.1287delC variant is predicted to result in a frameshift and premature protein termination (p.Trp430Glyfs*20). This variant was reported in the compound heterozygous state in two siblings with peroxisomal disorders (Gagnon et al. 2023. PubMed ID: 36649687). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PEX6 are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV003476210 SCV004201622 likely pathogenic Heimler syndrome 2 2023-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276617 SCV001463069 likely pathogenic Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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