Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000123252 | SCV000166559 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-25 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000579645 | SCV000684463 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-10 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000599780 | SCV000714354 | likely benign | not specified | 2017-03-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Myriad Genetics, |
RCV000123252 | SCV005406785 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
| Department of Pathology and Laboratory Medicine, |
RCV001356046 | SCV001551102 | likely benign | not provided | no assertion criteria provided | clinical testing | The CDH1 c.48+6_48+7delinsTT variant was not identified in the literature nor was it identified in the following databases: MutDB, Zhejiang Colon Cancer Database. The variant was identified in dbSNP (ID: rs786200947) as “With Likely benign allele”, ClinVar (as likely benign by Invitae, Color Genomics, and GeneDx), and Clinvitae (1x as likely benign). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.48+6_48+7delinsTT variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. However, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |