Total submissions: 16
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clingen Gastric Cancer Variant Curation Expert Panel | RCV003328162 | SCV001943347 | benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-09 | reviewed by expert panel | curation | The c.671G>A (p.Arg224His) missense variant has a frequency of 0. 0.00003189 (8 of 250,850) in the gnomAD v2.1.1 cohort, with a maximum non-founder allele frequency of 0.00006179 (7 of 113,278) in the African subpopulation (http://gnomad.broadinstitute.org). This variant has been observed in >50 individuals w/o DCG, SRC tumors, or LBC & whose families do not suggest HDGC (BS2; SCV000637843.5, SCV000278911.9). This variant was observed in the homozygous state in an individual without DGC, SRC tumors or LBC and whose family does not suggest HDGC (BP2_Strong, internal laboratory contributor). In summary, the clinical significance of this variant is classified as benign based the ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2, BP2_Strong. |
| Center for Genomic Medicine, |
RCV000216097 | SCV007128133 | benign | not specified | 2025-12-29 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV005357257 | SCV005916242 | likely benign | Ovarian cancer | 2024-03-06 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV000320751 | SCV004020055 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-03-07 | 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. |
| European Reference Network on Genetic Tumour Risk Syndromes |
RCV000320751 | SCV003926674 | benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BP2_Strong; BS2 (PMID: 30311375) |
| Sema4, |
RCV000129943 | SCV002529203 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-29 | criteria provided, single submitter | curation | |
| St. |
RCV000320751 | SCV001775509 | benign | Hereditary diffuse gastric adenocarcinoma | 2021-02-16 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000129943 | SCV000902871 | benign | Hereditary cancer-predisposing syndrome | 2024-09-25 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000320751 | SCV000839079 | benign | Hereditary diffuse gastric adenocarcinoma | 2023-08-22 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000320751 | SCV000637843 | benign | Hereditary diffuse gastric adenocarcinoma | 2026-01-04 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000216097 | SCV000600995 | likely benign | not specified | 2023-12-05 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000320751 | SCV000398553 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2018-01-18 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Gene |
RCV000034708 | SCV000278911 | uncertain significance | not provided | 2021-12-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast, ovarian, or prostate cancer (Lu 2015, Hauke 2018, Huang 2018); This variant is associated with the following publications: (PMID: 22703879, 25583476, 26689913, 27720647, 26486520, 26517685, 28135145, 25503501, 29522266, 15235021, 22850631, 29625052) |
| Ambry Genetics | RCV000129943 | SCV000184762 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-18 | 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 | RCV000320751 | SCV000785439 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2017-08-09 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |
| Biesecker Lab/Clinical Genomics Section, |
RCV000034708 | SCV000043243 | uncertain significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission from variant of unknown significance to Uncertain significance. |