ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.826G>C (p.Val276Leu)

gnomAD frequency: 0.00004  dbSNP: rs746008519
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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) RCV000595773 SCV000706788 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001221332 SCV001393372 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 276 of the PEX2 protein (p.Val276Leu). This variant is present in population databases (rs746008519, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 500722). 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. RCV001829667 SCV002083353 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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