Submissions for variant NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)

gnomAD frequency: 0.00065  dbSNP: rs142994610

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000285353	SCV000470497	uncertain significance	Peroxisome biogenesis disorder 1A (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.
Eurofins Ntd Llc (ga)	RCV000733368	SCV000861431	uncertain significance	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507178	SCV001028419	benign	Zellweger spectrum disorders	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000733368	SCV001155136	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262592	SCV001440520	likely benign	Heimler syndrome 1	2019-01-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001262592	SCV001526046	uncertain significance	Heimler syndrome 1	2018-01-24	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc.	RCV001507178	SCV002076813	benign	Zellweger spectrum disorders	2017-05-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902401	SCV004731738	likely benign	PEX1-related disorder	2022-02-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).