Submissions for variant NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)

dbSNP: rs1555567197

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002386136	SCV002673971	pathogenic	Hereditary cancer-predisposing syndrome	2023-12-04	criteria provided, single submitter	clinical testing	The c.740_741dupTG pathogenic mutation, located in coding exon 9 of the RAD51D gene, results from a duplication of TG at nucleotide position 740, causing a translational frameshift with a predicted alternate stop codon (p.T248*). This variant has been identified in an individual diagnosed with an ovarian cancer of endometrioid histology (Song H et al. J. Clin. Oncol., 2015 Sep;33:2901-7). In addition to the clinical data presented in the literature, 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.
Myriad Genetics, Inc.	RCV000662899	SCV004017782	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2023-04-06	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Counsyl	RCV000662899	SCV000785820	likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4	2017-12-12	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].