ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys)

gnomAD frequency: 0.00001  dbSNP: rs1354610463
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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 RCV001923457 SCV002197481 uncertain significance Peroxisome biogenesis disorder 2B 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 117 of the PEX5 protein (p.Asn117Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1416892). 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 RCV004749783 SCV005365590 uncertain significance PEX5-related disorder 2024-05-08 no assertion criteria provided clinical testing The PEX5 c.351C>G variant is predicted to result in the amino acid substitution p.Asn117Lys. 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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