Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003237802 | SCV002009429 | likely pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000241473 | SCV004018666 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35196514]. |
Department of Medical Genetics, |
RCV000241473 | SCV000301435 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-05-01 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000500821 | SCV000591575 | uncertain significance | Malignant tumor of breast | no assertion criteria provided | clinical testing | The p.Asp1692Ala variant has not been reported in the literature. The variant occurs in the first base of the exon, and this position has been shown to be part of the splicing consensus sequence and variants involving this position sometimes affect splicing. The p.Asp1692 residue is conserved across mammals and computational analyses (PolyPhen, SIFT, AlignGVGD) computational analyses (PolyPhen2, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined at this time. This variant is classified as a variant of unknown significance. | |
Brotman Baty Institute, |
RCV000241473 | SCV001244051 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |