ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.227C>T (p.Ser76Leu)

gnomAD frequency: 0.00001  dbSNP: rs139930879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335192 SCV001528280 uncertain significance Peroxisome biogenesis disorder 8A (Zellweger) 2018-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001865827 SCV002267322 uncertain significance Peroxisome biogenesis disorder 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 76 of the PEX16 protein (p.Ser76Leu). This variant is present in population databases (rs139930879, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX16-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032942). 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.

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