ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.129G>C (p.Ala43=)

gnomAD frequency: 0.00001  dbSNP: rs1256466654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307840 SCV001497266 uncertain significance Peroxisome biogenesis disorder 9B 2023-12-11 criteria provided, single submitter clinical testing This sequence change affects codon 43 of the PEX7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX7 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010243). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002476419 SCV002787724 uncertain significance Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973200 SCV004798743 likely benign PEX7-related condition 2024-03-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001835506 SCV002077230 uncertain significance Rhizomelic chondrodysplasia punctata 2020-05-07 no assertion criteria provided clinical testing

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