ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1144G>C (p.Val382Leu)

gnomAD frequency: 0.00001  dbSNP: rs886044219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260183 SCV000343983 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859701 SCV002167167 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 382 of the PEX13 protein (p.Val382Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 289598). 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.
PreventionGenetics, part of Exact Sciences RCV004549617 SCV004714261 uncertain significance PEX13-related disorder 2024-02-02 no assertion criteria provided clinical testing The PEX13 c.1144G>C variant is predicted to result in the amino acid substitution p.Val382Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino 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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