Submissions for variant NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)

gnomAD frequency: 0.00055  dbSNP: rs144825021

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078924	SCV000110784	likely benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368382	SCV000470504	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001277303	SCV001060450	benign	Zellweger spectrum disorders	2024-01-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV004791262	SCV005409280	uncertain significance	not provided	2024-04-19	criteria provided, single submitter	clinical testing	BS1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center	RCV001252811	SCV001163954	uncertain significance	Microcephaly		no assertion criteria provided	research
Natera, Inc.	RCV001277303	SCV001464244	likely benign	Zellweger spectrum disorders	2020-05-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935024	SCV004748819	benign	PEX1-related disorder	2019-05-29	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).