ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.534G>C (p.Gln178His)

gnomAD frequency: 0.00001  dbSNP: rs746010906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001290440 SCV001478406 uncertain significance Peroxisome biogenesis disorder 9B 2021-02-05 criteria provided, single submitter clinical testing The PEX7 variant c.534G>C (p.(Gln178His)) is found at a population frequency of 0.0018% in the gnomAD database, it affects a weakly conserved nucleotide and a moderately conserved amino acid and there is a small physicochemical difference between Gln and His. This variant is located in a protein domain and has a benign computational verdict based on in silico prediction programs (M-CAP, SIFT, PolyPhen-2). ACMG criteria used for classification: PM2, PP2, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001290440 SCV002298096 uncertain significance Peroxisome biogenesis disorder 9B 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 178 of the PEX7 protein (p.Gln178His). This variant is present in population databases (rs746010906, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 996150). 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.

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