ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2720T>C (p.Ile907Thr) (rs200408568)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472819 SCV000553637 likely benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574505 SCV000661826 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-20 criteria provided, single submitter clinical testing The p.I907T variant (also known as c.2720T>C), located in coding exon 16 of the DICER1 gene, results from a T to C substitution at nucleotide position 2720. The isoleucine at codon 907 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000472819 SCV000891030 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2020-09-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000472819 SCV001277883 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-03-26 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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