Submissions for variant NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)

dbSNP: rs398122627

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077057	SCV000299537	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics	RCV002444545	SCV002734307	pathogenic	Hereditary cancer-predisposing syndrome	2021-06-23	criteria provided, single submitter	clinical testing	The p.R365* pathogenic mutation (also known as c.1093A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1093. This changes the amino acid from an arginine to a stop codon within coding exon 9. 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.
Sharing Clinical Reports Project (SCRP)	RCV000077057	SCV000108854	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2008-09-05	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496935	SCV000587105	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research