ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)

gnomAD frequency: 0.00002  dbSNP: rs587778229
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000462299 SCV000389749 likely benign DICER1-related tumor predisposition 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000462299 SCV000553584 likely benign DICER1-related tumor predisposition 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562797 SCV000661855 likely benign Hereditary cancer-predisposing syndrome 2023-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000120638 SCV001371916 likely benign not specified 2019-07-01 criteria provided, single submitter curation ACMG criteria met: BS1, BP1, BP4
GeneDx RCV003223612 SCV003919594 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24728327, 30093976, 26241669, 29762508)
ITMI RCV000120638 SCV000084799 not provided not specified 2013-09-19 no assertion provided reference population

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