Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
RCV000148459 | SCV000190158 | uncertain significance | Aortic aneurysm | 2014-06-01 | criteria provided, single submitter | research | Low GERP score may suggest that this variant may belong in a lower pathogenicity class |
Gene |
RCV000181067 | SCV000233343 | benign | not specified | 2018-02-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000771255 | SCV000317906 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-06-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Illumina Laboratory Services, |
RCV000325556 | SCV000425500 | likely benign | Ehlers-Danlos syndrome, type 4 | 2018-04-26 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Labcorp Genetics |
RCV000325556 | SCV000554693 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771255 | SCV000903364 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-04-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771255 | SCV001333507 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277293 | SCV002565649 | likely benign | Ehlers-Danlos syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000181067 | SCV004121981 | likely benign | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing | Variant summary: COL3A1 c.505C>T (p.Leu169Phe) 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 0.0008 in 251010 control chromosomes. The observed variant frequency is approximately 640 fold of the estimated maximal expected allele frequency for a pathogenic variant in COL3A1 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.505C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as benign/likely benign (n=7) and VUS (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Ce |
RCV003430712 | SCV004148274 | benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | COL3A1: BS1, BS2 |
Knight Diagnostic Laboratories, |
RCV000325556 | SCV000493726 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2015-09-01 | no assertion criteria provided | clinical testing |