ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.680T>C (p.Val227Ala)

gnomAD frequency: 0.00011  dbSNP: rs777842778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514986 SCV000610851 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000514986 SCV000702846 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001071012 SCV001236293 uncertain significance Peroxisome biogenesis disorder 2B 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 227 of the PEX5 protein (p.Val227Ala). This variant is present in population databases (rs777842778, gnomAD 0.04%). 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: 445968). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004748799 SCV005367404 uncertain significance PEX5-related disorder 2024-07-12 no assertion criteria provided clinical testing The PEX5 c.680T>C variant is predicted to result in the amino acid substitution p.Val227Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% 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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