ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.602T>C (p.Ile201Thr) (rs375209004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087457 SCV000289444 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000236932 SCV000294025 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing This variant is denoted POLE c.602T>C at the cDNA level, p.Ile201Thr (I201T) at the protein level, and results in the change of an Isoleucine to a Threonine (ATT>ACT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE Ile201Thr was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project and 1000 Genomes. Since Isoleucine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. POLE Ile201Thr occurs at a position that is not conserved and is not located in a known functional domain (Tahirov 2009, Preston 2010). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether POLE Ile201Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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