ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.968C>T (p.Thr323Ile)

gnomAD frequency: 0.00001  dbSNP: rs1559047077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050365 SCV001214467 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 323 of the PEX13 protein (p.Thr323Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PEX13-related conditions. This variant is not present in population databases (ExAC no frequency).

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