ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)

dbSNP: rs1210968366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305803 SCV001495151 uncertain significance Peroxisome biogenesis disorder 9B 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 41 of the PEX7 protein (p.Gly41Arg). This variant is not present in population databases (gnomAD no frequency). 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: 1008460). 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 disruptive. 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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796598 SCV005417855 uncertain significance Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3_Supporting
Natera, Inc. RCV001835484 SCV002077229 uncertain significance Rhizomelic chondrodysplasia punctata 2020-03-31 no assertion criteria provided clinical testing

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