ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1961+20G>A

gnomAD frequency: 0.56870  dbSNP: rs2274514
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078568 SCV000110424 benign not specified 2013-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078568 SCV000303462 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588852 SCV000696486 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The PEX6 c.1961+20G>A variant involves the alteration of a non-conserved intronic nucleotide with 4/5 splice prediction tools predicting no significant impact on splicing and ESE finder predicting alterations to ESE binding. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 59608/121396 (15767 homozygotes, 1/2), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic PEX6 variant of 1/516, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522196 SCV001731689 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543734 SCV001762571 benign Heimler syndrome 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543838 SCV001762713 benign Peroxisome biogenesis disorder 4A (Zellweger) 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543839 SCV001762714 benign Peroxisome biogenesis disorder 4B 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000588852 SCV001873780 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000588852 SCV000801831 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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