Submissions for variant NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)

dbSNP: rs61752138

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427819	SCV000516541	pathogenic	not provided	2019-03-28	criteria provided, single submitter	clinical testing	Published functional studies demonstrate a damaging effect (Dodt et al., 1995; Shimozawa et al., 1999; Carvalho et al., 2007); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31130284, 11101887, 7719337, 10462504, 18712838, 17532062)
Baylor Genetics	RCV000723322	SCV001525319	pathogenic	Peroxisome biogenesis disorder 2A (Zellweger)	2020-05-15	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000427819	SCV003811354	likely pathogenic	not provided	2021-11-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000723322	SCV003924308	pathogenic	Peroxisome biogenesis disorder 2A (Zellweger)	2023-05-08	criteria provided, single submitter	research
OMIM	RCV000009714	SCV000029932	pathogenic	Peroxisome biogenesis disorder 2B	1995-02-01	no assertion criteria provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000723322	SCV000854715	pathogenic	Peroxisome biogenesis disorder 2A (Zellweger)	2018-06-26	no assertion criteria provided	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000009714	SCV000854716	pathogenic	Peroxisome biogenesis disorder 2B	2018-06-26	no assertion criteria provided	clinical testing