ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1532_1533del (p.His511fs)

dbSNP: rs1595411687
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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 RCV001012058 SCV001172459 pathogenic Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing The c.1532_1533delAT pathogenic mutation, located in coding exon 9 of the DICER1 gene, results from a deletion of two nucleotides at nucleotide positions 1532 to 1533, causing a translational frameshift with a predicted alternate stop codon (p.H511Rfs*16). This mutation has been reported in a 28-year-old with a Sertoli-Leydig cell tumor (de Kock L et al. Am. J. Surg. Pathol. 2017 Sep;41(9):1178-1187). 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.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001201111 SCV001372141 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PM7, PP4

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