ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)

gnomAD frequency: 0.00014  dbSNP: rs138843050
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732617 SCV000860592 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV001395788 SCV001597504 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536485 SCV003535437 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.425G>A (p.R142Q) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 425, causing the arginine (R) at amino acid position 142 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825473 SCV002094133 likely benign Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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