Submissions for variant NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)

gnomAD frequency: 0.00188  dbSNP: rs139054881

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239086	SCV000296922	likely benign	not specified	2015-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507190	SCV001030355	benign	Zellweger spectrum disorders	2024-07-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000886828	SCV001320776	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.
Natera, Inc.	RCV001507190	SCV002076052	benign	Zellweger spectrum disorders	2017-06-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939908	SCV004752020	benign	PEX1-related disorder	2019-07-26	no assertion criteria provided	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).