Submissions for variant NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)

dbSNP: rs375288192

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732195	SCV000860115	uncertain significance	not provided	2018-03-26	criteria provided, single submitter	clinical testing
Invitae	RCV001245942	SCV001419268	likely benign	Peroxisome biogenesis disorder	2024-01-04	criteria provided, single submitter	clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	RCV003338774	SCV004047714	uncertain significance	Peroxisome biogenesis disorder 4A (Zellweger)		criteria provided, single submitter	clinical testing	The missense variant p.E592Q in PEX6 (NM_000287.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. There is a small physicochemical difference between glutamic acid and glutamine, which is not likely to impact secondary protein structure as these residues share similar properties. The p.E592Q missense variant is predicted to be tolerated by both SIFT or PolyPhen2. The nucleotide c.1774 in PEX6 is not conserved according to a GERP++ and PhyloP analysis of 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV000732195	SCV004699971	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PEX6: PM2, BP4
Natera, Inc.	RCV001830618	SCV002077298	uncertain significance	Zellweger spectrum disorders	2019-10-28	no assertion criteria provided	clinical testing