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

gnomAD frequency: 0.00001  dbSNP: rs780119112

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001316857	SCV001507497	likely benign	Zellweger spectrum disorders	2024-02-19	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005394937	SCV006058060	uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B	2023-02-15	criteria provided, single submitter	research
Natera, Inc.	RCV001316857	SCV002079330	uncertain significance	Zellweger spectrum disorders	2017-10-18	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003898302	SCV004713268	uncertain significance	PEX1-related disorder	2023-10-28	no assertion criteria provided	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.