ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp)

gnomAD frequency: 0.00001  dbSNP: rs772805558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369467 SCV001565908 uncertain significance Peroxisome biogenesis disorder 2B 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 597 of the PEX5 protein (p.Gly597Asp). This variant is present in population databases (rs772805558, gnomAD 0.05%). 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: 1060086). 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. 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 RCV004037078 SCV005002614 uncertain significance Inborn genetic diseases 2021-04-07 criteria provided, single submitter clinical testing The c.1790G>A (p.G597D) alteration is located in exon 16 (coding exon 15) of the PEX5 gene. This alteration results from a G to A substitution at nucleotide position 1790, causing the glycine (G) at amino acid position 597 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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