ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs200752969
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Total submissions: 12
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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
Invitae 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

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