Submissions for variant NM_002878.4(RAD51D):c.-82_82+91del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002427939	SCV002681424	pathogenic	Hereditary cancer-predisposing syndrome	2022-01-04	criteria provided, single submitter	clinical testing	The c.-82_82+91del255 gross deletion includes at least a portion of the 5’ untranslated region (UTR) through coding exon 1 and a portion of intron 1 in the RAD51D gene. Gross deletions are typically deleterious in nature and are expected to result in loss of function due to an abnormal transcript, a translational frameshift leading to premature truncation, or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
GeneDx	RCV004725258	SCV005333731	likely pathogenic	not provided	2023-12-20	criteria provided, single submitter	clinical testing	Deletion involving part of the 5' untranslated region, the initiation codon and a coding exon predicted to result in loss of function in a gene for while loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; A similar deletion of RAD51D exon 1 has been reported in an individual with triple-negative breast cancer (PMID: 26976419); This variant is associated with the following publications: (PMID: 26976419)