Submissions for variant NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)

gnomAD frequency: 0.00063  dbSNP: rs138232280

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178314	SCV000230373	likely benign	not specified	2017-04-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302632	SCV000437333	uncertain significance	Peroxisome biogenesis disorder 7A (Zellweger)	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000983944	SCV001131994	benign	Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B	2024-01-31	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000178314	SCV001984486	benign	not specified	2019-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927659	SCV004751150	benign	PEX26-related condition	2019-06-05	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).