Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000034415 | SCV000209525 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in a healthy control individual and in an individual with atherosclerosis in published literature (Azzopardi et al., 2008; Johnston et al., 2012); This variant is associated with the following publications: (PMID: 18199528, 22703879, 26320869) |
Ambry Genetics | RCV000159555 | SCV000214752 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-15 | 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. |
Invitae | RCV003743552 | SCV000254014 | likely benign | Familial adenomatous polyposis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000196865 | SCV000488485 | uncertain significance | Familial adenomatous polyposis 1 | 2016-04-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515179 | SCV000611338 | uncertain significance | Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000159555 | SCV000686973 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-03 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with serine at codon 1458 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with pancreatic cancer in the literature (PMID: 28726808), but has also been observed in healthy individuals (PMID: 18199528, 22703879). This variant has been identified in 18/282574 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. |
Mendelics | RCV003492325 | SCV000838118 | likely benign | Hereditary cancer | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003315548 | SCV004018790 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-22 | 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. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034415 | SCV000043127 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |