ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5278G>A (p.Val1760Met) (rs373272795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767206 SCV000293836 uncertain significance not provided 2016-01-20 criteria provided, single submitter clinical testing This variant is denoted POLE c.5278G>A at the cDNA level, p.Val1760Met (V1760M) at the protein level, and results in the change of a Valine to a Methionine (GTG>ATG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE Val1760Met was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Valine and Methionine share similar properties, this is considered a conservative amino acid substitution. POLE Val1760Met occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether POLE Val1760Met is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000236900 SCV000540096 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has not been reported in any affected patients. It is classified as VUS in ClinVar (1 star) by GeneDx. It is present in ExAC at 0.07% and gnomAD at 0.1% (19 alleles - too high for gene-disease prevalence).
Invitae RCV001083628 SCV000544129 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing

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