ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys)

gnomAD frequency: 0.00016  dbSNP: rs767347186
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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) RCV000593734 SCV000708634 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001341339 SCV001535208 uncertain significance Peroxisome biogenesis disorder 2B 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 224 of the PEX5 protein (p.Glu224Lys). This variant is present in population databases (rs767347186, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 502042). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX5 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV004024836 SCV005002619 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.670G>A (p.E224K) alteration is located in exon 8 (coding exon 7) of the PEX5 gene. This alteration results from a G to A substitution at nucleotide position 670, causing the glutamic acid (E) at amino acid position 224 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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