ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2792T>C (p.Phe931Ser) (rs376546593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080894 SCV000289310 likely benign Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000481011 SCV000569681 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing This variant is denoted POLE c.2792T>C at the cDNA level, p.Phe931Ser (F931S) at the protein level, and results in the change of a Phenylalanine to a Serine (TTT>TCT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE Phe931Ser was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Phenylalanine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. POLE Phe931Ser occurs at a position that is conserved across species and is located in the within the polymerase domain (Preston 2010). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether POLE Phe931Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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