ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2T>C (p.Met1Thr) (rs878855254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562389 SCV000669371 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000227003 SCV000291650 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DICER1 mRNA. The next in-frame methionine is located at codon 11. Use of the second ATG would lead to the deletion of 10 amino acid residues in the DICER1 protein but otherwise preserve the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) . This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 242076). Experimental studies and prediction algorithms are not available for this variant. 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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