ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)

gnomAD frequency: 0.00001  dbSNP: rs780119112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316857 SCV001507497 likely benign Zellweger spectrum disorders 2023-11-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898302 SCV004713268 uncertain significance PEX1-related disorder 2023-10-28 criteria provided, single submitter clinical testing The PEX1 c.803C>G variant is predicted to result in the amino acid substitution p.Thr268Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-92147026-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001316857 SCV002079330 uncertain significance Zellweger spectrum disorders 2017-10-18 no assertion criteria provided clinical testing

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