Submissions for variant NM_000466.3(PEX1):c.627G>A (p.Met209Ile)

gnomAD frequency: 0.00016  dbSNP: rs200752969

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153672	SCV000203229	uncertain significance	not provided	2014-04-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298239	SCV000470523	uncertain significance	Peroxisome biogenesis disorder 1A (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, 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.
Counsyl	RCV000298239	SCV000799913	uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	2018-05-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001240934	SCV001413918	likely benign	Zellweger spectrum disorders	2024-01-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001328780	SCV001519980	uncertain significance	Heimler syndrome 1	2020-09-10	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV001824124	SCV002073794	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516087	SCV003694350	uncertain significance	Inborn genetic diseases	2022-09-14	criteria provided, single submitter	clinical testing	The c.627G>A (p.M209I) alteration is located in exon 5 (coding exon 5) of the PEX1 gene. This alteration results from a G to A substitution at nucleotide position 627, causing the methionine (M) at amino acid position 209 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV000153672	SCV004224047	uncertain significance	not provided	2023-01-26	criteria provided, single submitter	clinical testing	BP4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000298239	SCV001133228	likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	2019-09-26	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000153672	SCV001799823	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153672	SCV001975659	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001240934	SCV002079341	uncertain significance	Zellweger spectrum disorders	2019-06-18	no assertion criteria provided	clinical testing