Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165420 | SCV000216149 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000411136 | SCV000489304 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000411136 | SCV000545461 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000485531 | SCV000567175 | uncertain significance | not provided | 2022-12-29 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22252131, 15235021, 22850631) |
Color Diagnostics, |
RCV000165420 | SCV000684413 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-27 | criteria provided, single submitter | clinical testing | This missense variant replaces tyrosine with cysteine at codon 754 of the CDH1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/282888 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV000485531 | SCV003831018 | uncertain significance | not provided | 2022-01-26 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000411136 | SCV004019530 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-03-03 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000485531 | SCV004220817 | uncertain significance | not provided | 2024-12-02 | criteria provided, single submitter | clinical testing | The CDH1 c.2261A>G (p.Tyr754Cys) variant has been reported in the published literature in a cohort of women identified as having low risk for breast cancer (PMID: 38153744 (2023)). The frequency of this variant in the general population, 0.000023 (3/129186 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |
Baylor Genetics | RCV004567271 | SCV005060087 | uncertain significance | Familial cancer of breast | 2024-02-09 | criteria provided, single submitter | clinical testing |