Submissions for variant NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)

gnomAD frequency: 0.00039  dbSNP: rs146416679

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597689	SCV000707115	uncertain significance	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV001049098	SCV001213132	likely benign	Peroxisome biogenesis disorder	2024-01-21	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333352	SCV001525905	uncertain significance	Heimler syndrome 2	2018-05-10	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000597689	SCV003814878	uncertain significance	not provided	2022-06-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003403400	SCV004110982	uncertain significance	PEX6-related condition	2023-12-18	criteria provided, single submitter	clinical testing	The PEX6 c.1757C>T variant is predicted to result in the amino acid substitution p.Ala586Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc.	RCV001834899	SCV002077299	uncertain significance	Zellweger spectrum disorders	2019-10-28	no assertion criteria provided	clinical testing