ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.767C>T (p.Thr256Ile)

gnomAD frequency: 0.00002  dbSNP: rs985608709
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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 RCV002035835 SCV002291674 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2021-09-14 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with PEX13-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 256 of the PEX13 protein (p.Thr256Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.
PreventionGenetics, part of Exact Sciences RCV004741187 SCV005343678 uncertain significance PEX13-related disorder 2024-06-14 no assertion criteria provided clinical testing The PEX13 c.767C>T variant is predicted to result in the amino acid substitution p.Thr256Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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