Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003316239 | SCV000282827 | likely benign | Familial adenomatous polyposis 1 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562662 | SCV000667227 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-26 | 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 | RCV000229496 | SCV000785247 | uncertain significance | Familial adenomatous polyposis 1 | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000229496 | SCV000838068 | uncertain significance | Familial adenomatous polyposis 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000562662 | SCV000902854 | benign | Hereditary cancer-predisposing syndrome | 2016-06-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001156936 | SCV001318476 | uncertain significance | APC-Associated Polyposis Disorders | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193538 | SCV001362437 | uncertain significance | not specified | 2019-01-25 | criteria provided, single submitter | clinical testing | Variant summary: APC c.757G>A (p.Gly253Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.3e-05 in 276640 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.757G>A has been reported in the literature in cancer samples and individuals affected with cancer, specifically T cell acute lymphoblastic leukemia, familial gastrointestinal polyposis/cancers and pancreatic ductal adenocarcinoma (Kohda_2016, Ohmoto_2016, Kalender_2012). These reports do not provide unequivocal conclusions about association of the variant with Familial Adenomatous Polyposis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Center for Genomic Medicine, |
RCV001193538 | SCV002760344 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003316239 | SCV004019656 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-15 | 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. |
Baylor Genetics | RCV000229496 | SCV004198303 | uncertain significance | Familial adenomatous polyposis 1 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477779 | SCV004220587 | likely benign | not provided | 2018-12-18 | criteria provided, single submitter | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677749 | SCV000803905 | uncertain significance | Colon cancer | 2017-06-14 | no assertion criteria provided | clinical testing | |
Genome |
RCV001156936 | SCV002075117 | not provided | APC-Associated Polyposis Disorders | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 04-28-2021 by Lab or GTR ID 320353. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |