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

gnomAD frequency: 0.00001  dbSNP: rs1256466654

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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
Natera, Inc.	RCV001835506	SCV002077230	uncertain significance	Rhizomelic chondrodysplasia punctata	2020-05-07	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545196	SCV004798743	likely benign	PEX7-related disorder	2024-03-01	no assertion criteria provided	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).