Submissions for variant NM_001351132.2(PEX5):c.183G>A (p.Glu61=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002851028	SCV003216320	uncertain significance	Peroxisome biogenesis disorder 2B	2022-08-16	criteria provided, single submitter	clinical testing	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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is present in population databases (rs767941689, gnomAD 0.02%). This sequence change affects codon 61 of the PEX5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX5 protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon.
Ambry Genetics	RCV002851027	SCV003759494	uncertain significance	Inborn genetic diseases	2021-12-20	criteria provided, single submitter	clinical testing	Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.