ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3045_3054del (p.Ser1015fs)

dbSNP: rs1595372666
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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 RCV001018288 SCV001179504 pathogenic Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing The c.3045_3054del10 pathogenic mutation, located in coding exon 18 of the DICER1 gene, results from a deletion of 10 nucleotides at nucleotide positions 3045 to 3054, causing a translational frameshift with a predicted alternate stop codon (p.S1015Rfs*48). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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