ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.718G>A (p.Val240Met)

gnomAD frequency: 0.00010  dbSNP: rs371882716
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001556723 SCV000289488 uncertain significance not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 240 of the POLE protein (p.Val240Met). This variant is present in population databases (rs371882716, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 240624). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001556723 SCV001778354 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23525077, 26251183, 29273096)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465597 SCV002761021 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001556723 SCV005197246 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008202 SCV005633768 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2024-02-29 criteria provided, single submitter clinical testing

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