Submissions for variant NM_177438.3(DICER1):c.2613C>T (p.Asp871=)

dbSNP: rs759827733

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464456	SCV000563427	likely benign	DICER1-related tumor predisposition	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574756	SCV000669339	likely benign	Hereditary cancer-predisposing syndrome	2017-07-24	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316630	SCV004017412	likely benign	Pleuropulmonary blastoma	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320189	SCV004024427	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge	RCV000574756	SCV005442454	likely benign	Hereditary cancer-predisposing syndrome	2024-12-19	criteria provided, single submitter	clinical testing	BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003900001	SCV004711604	likely benign	DICER1-related disorder	2023-07-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).