Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000725829 | SCV000233388 | uncertain significance | not provided | 2023-12-23 | criteria provided, single submitter | clinical testing | Identified in individuals with arterial dissection and/or aneurysm in the published literature and classified as a variant of uncertain significance (PMID: 26854089, 25758994, 20825986); Identified in a proband with spontaneous iliac artery dissection in the published literature, but the variant did not segregate with disease in this family; a second cardiogenetic variant in the COL1A1 gene was identified in the proband that segregated with disease and was classified by the authors as pathogenic (PMID: 31531849); Identified in a patient with Marfan syndrome who also harbored a likely pathogenic variant in the FBN1 gene (PMID: 30087447); Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(K1106R); This variant is associated with the following publications: (PMID: 29590070, 25758994, 20825986, 31531849, 26854089, 30087447) |
Labcorp Genetics |
RCV001087510 | SCV000262437 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000771822 | SCV000319224 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-17 | 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. |
Eurofins Ntd Llc |
RCV000725829 | SCV000339677 | uncertain significance | not provided | 2016-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515270 | SCV000611385 | uncertain significance | Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771822 | SCV000904527 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-08 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001087510 | SCV001299204 | benign | Ehlers-Danlos syndrome, type 4 | 2017-04-28 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Johns Hopkins Genomics, |
RCV000725829 | SCV001762374 | likely benign | not provided | 2021-07-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000725829 | SCV002048320 | likely benign | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771822 | SCV003838691 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-10-01 | criteria provided, single submitter | clinical testing |