ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala)

gnomAD frequency: 0.00002  dbSNP: rs751937990
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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 RCV001313079 SCV001503557 uncertain significance Peroxisome biogenesis disorder 2B 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 39 of the PEX5 protein (p.Pro39Ala). This variant is not present in population databases (gnomAD no frequency). 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: 1014355). 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 RCV003246868 SCV003950818 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.115C>G (p.P39A) alteration is located in exon 2 (coding exon 1) of the PEX5 gene. This alteration results from a C to G substitution at nucleotide position 115, causing the proline (P) at amino acid position 39 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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