ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2783G>A (p.Arg928His)

gnomAD frequency: 0.00010  dbSNP: rs201265954
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592532 SCV000703837 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246416 SCV001419770 uncertain significance Peroxisome biogenesis disorder 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 928 of the PEX6 protein (p.Arg928His). This variant is present in population databases (rs201265954, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 498696). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PEX6 protein function. 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.
GeneDx RCV000592532 SCV001989790 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476295 SCV002786995 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834878 SCV002077264 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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