ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.740C>G (p.Pro247Arg)

gnomAD frequency: 0.00010  dbSNP: rs199697021
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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) RCV000731134 SCV000858912 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing
Invitae RCV001247070 SCV001420469 uncertain significance Peroxisome biogenesis disorder 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 247 of the PEX6 protein (p.Pro247Arg). This variant is present in population databases (rs199697021, 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: 595555). 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.
Natera, Inc. RCV001830613 SCV002077335 uncertain significance Zellweger spectrum disorders 2020-01-14 no assertion criteria provided clinical testing

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