ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3019C>G (p.Gln1007Glu)

dbSNP: rs1131691189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018069 SCV001179251 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-28 criteria provided, single submitter clinical testing The p.Q1007E variant (also known as c.3019C>G), located in coding exon 18 of the DICER1 gene, results from a C to G substitution at nucleotide position 3019. The glutamine at codon 1007 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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