ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)

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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 RCV003079936 SCV003470758 uncertain significance Peroxisome biogenesis disorder 2B 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 182 of the PEX5 protein (p.Asp182Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004071883 SCV005002616 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.544G>A (p.D182N) alteration is located in exon 6 (coding exon 5) of the PEX5 gene. This alteration results from a G to A substitution at nucleotide position 544, causing the aspartic acid (D) at amino acid position 182 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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