Submissions for variant NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)

dbSNP: rs201415996

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001004522	SCV001163567	pathogenic	Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001784534	SCV002016573	pathogenic	not provided	2023-01-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001869414	SCV002231789	pathogenic	Zellweger spectrum disorders	2022-10-28	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: 810635). This premature translational stop signal has been observed in individual(s) with clinical features Zellweger spectrum disorder (PMID: 32056211, 32214227). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg135*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001030786	SCV004806577	pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	2024-03-26	criteria provided, single submitter	clinical testing
Section for Clinical Neurogenetics, University of Tübingen	RCV001030786	SCV001156097	likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	2019-08-01	no assertion criteria provided	research