Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328250 | SCV004035120 | likely benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-02 | reviewed by expert panel | curation | The c.300C>G variant (NM_004360.5) is a synonymous (silent) variant (p.Val100=) that is not predicted by SpliceAI, varSEAK, to impact splicing (BP4). Although this variant is absent in gnomAD v2.1.1 and v3.1 (PM2_Supporting), it has been observed in more than 10 heterozygous individuals with no DCG, SRC tumours, or LBC and whose families do not suggest HDGC (BS2; Ambry Genetics, Invitae, University of Washington). In summary, although there are both pathogenic and benign types of evidence for this variant, the CDH1 VCEP classified the variant as likely benign for DGLBCS based on BS2 alone. (CDH1 VCEP specifications version 3.1; 05/06/2022) |
Ambry Genetics | RCV000163693 | SCV000214267 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Counsyl | RCV000409152 | SCV000487923 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2015-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409152 | SCV000545474 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163693 | SCV000689526 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409152 | SCV004020007 | benign | Hereditary diffuse gastric adenocarcinoma | 2023-03-06 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |