ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.496G>A (p.Val166Ile)

gnomAD frequency: 0.00001  dbSNP: rs368864383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359260 SCV001555123 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 166 of the PEX10 protein (p.Val166Ile). This variant is present in population databases (rs368864383, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1051245). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Natera, Inc. RCV001831188 SCV002094126 uncertain significance Zellweger spectrum disorders 2020-03-25 no assertion criteria provided clinical testing

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