ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr)

gnomAD frequency: 0.00002  dbSNP: rs768857476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245220 SCV001418493 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 143 of the PEX26 protein (p.Ala143Thr). This variant is present in population databases (rs768857476, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 969794). 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 RCV003166540 SCV003908476 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.427G>A (p.A143T) alteration is located in exon 4 (coding exon 3) of the PEX26 gene. This alteration results from a G to A substitution at nucleotide position 427, causing the alanine (A) at amino acid position 143 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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