Submissions for variant NM_007294.4(BRCA1):c.1568del (p.Leu523fs)

dbSNP: rs1555591543

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625757	SCV000746290	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2017-12-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001012173	SCV001172596	pathogenic	Hereditary cancer-predisposing syndrome	2018-07-12	criteria provided, single submitter	clinical testing	The c.1568delT variant, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1568, causing a translational frameshift with a predicted alternate stop codon (p.L523Wfs*9). This mutation has been reported in a cohort of 254 early-onset breast cancer patients from Iran (Yassaee VR et al. Asian Pac. J. Cancer Prev., 2016;17:149-53) as well as in 1/273 breast cancer patients from Sweden (Winter C et al. Ann. Oncol., 2016 08;27:1532-8). 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.
Academic Center for Education, Culture and Research, Motamed Cancer Institute	RCV000778094	SCV000914203	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2019-05-21	no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000625757	SCV004244122	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2020-03-02	no assertion criteria provided	clinical testing