ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)

gnomAD frequency: 0.00003  dbSNP: rs1266603500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727272 SCV000707123 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532556 SCV003719632 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.551G>A (p.R184H) alteration is located in exon 4 (coding exon 1) of the PEX2 gene. This alteration results from a G to A substitution at nucleotide position 551, causing the arginine (R) at amino acid position 184 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829673 SCV002083364 uncertain significance Zellweger spectrum disorders 2020-01-24 no assertion criteria provided clinical testing

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