ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln)

gnomAD frequency: 0.00006  dbSNP: rs371782808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733173 SCV000861204 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV001070914 SCV001236193 uncertain significance Peroxisome biogenesis disorder 2022-09-27 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 517 of the PEX6 protein (p.Arg517Gln). This variant is present in population databases (rs371782808, gnomAD 0.01%). 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: 597143). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001830632 SCV002077310 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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