ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.745C>T (p.Gln249Ter)

dbSNP: rs886037732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota RCV000240901 SCV000195640 pathogenic DICER1-related tumor predisposition 2014-11-11 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000240901 SCV001371962 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PP4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000240901 SCV005880288 pathogenic DICER1-related tumor predisposition 2024-11-28 criteria provided, single submitter clinical testing Evidence in support of pathogenic classification: - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). - Variant is absent from gnomAD (v2, v3 and v4). - This variant has limited previous evidence of pathogenicity in unrelated individuals. It has been reported in the literature as heterozygous in an individual with granulosa cell tumour (PMID: 38898688). - Other NMD-predicted variant(s) comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). Additional information: - This variant is heterozygous. - This gene is associated with autosomal dominant disease. - No published segregation evidence has been identified for this variant. - No published functional evidence has been identified for this variant. - Loss of function is a known mechanism of disease in this gene and is associated with DICER1-related conditions. - Inheritance information for this variant is not currently available in this individual.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000240901 SCV005912872 likely pathogenic DICER1-related tumor predisposition 2024-11-19 criteria provided, single submitter clinical testing

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