ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)

gnomAD frequency: 0.00001  dbSNP: rs757778155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228273 SCV001400665 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 113 of the PEX10 protein (p.Leu113Pro). This variant is present in population databases (rs757778155, gnomAD 0.003%). 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: 955602). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002480749 SCV002787790 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2021-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828822 SCV002094136 uncertain significance Zellweger spectrum disorders 2020-09-13 no assertion criteria provided clinical testing

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