ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln)

gnomAD frequency: 0.00009  dbSNP: rs138431842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728430 SCV000856007 uncertain significance not provided 2017-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053362 SCV001217620 uncertain significance Peroxisome biogenesis disorder 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 536 of the PEX6 protein (p.Arg536Gln). This variant is present in population databases (rs138431842, gnomAD 0.05%). 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: 593404). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
PreventionGenetics, part of Exact Sciences RCV004547920 SCV004115385 uncertain significance PEX6-related disorder 2023-10-05 criteria provided, single submitter clinical testing The PEX6 c.1607G>A variant is predicted to result in the amino acid substitution p.Arg536Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-42936109-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001825447 SCV002077306 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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