ClinVar Miner

Submissions for variant NM_002692.4(POLE2):c.856A>G (p.Met286Val)

gnomAD frequency: 0.00002  dbSNP: rs368277605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968364 SCV002239387 uncertain significance not provided 2021-09-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 286 of the POLE2 protein (p.Met286Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs368277605, ExAC 0.01%). This missense change has been observed in individual(s) with colorectal cancer (PMID: 32449991). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.

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