Submissions for variant NM_000318.3(PEX2):c.24G>A (p.Ala8=)

gnomAD frequency: 0.03660  dbSNP: rs9298285

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000332603	SCV000475115	benign	Peroxisome biogenesis disorder 5A (Zellweger)	2018-01-13	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000676169	SCV000981238	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000332603	SCV001732022	benign	Peroxisome biogenesis disorder 5A (Zellweger)	2024-02-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676169	SCV000801920	benign	not provided	2016-10-14	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001275877	SCV001461524	benign	Zellweger spectrum disorders	2020-09-16	no assertion criteria provided	clinical testing