Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863850 | SCV001004572 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189197 | SCV001356438 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772159 | SCV002002218 | uncertain significance | not provided | 2022-02-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003489947 | SCV004242140 | likely benign | not specified | 2023-12-11 | criteria provided, single submitter | clinical testing | Variant summary: COL3A1 c.289C>T (p.Arg97Cys) 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 0.00012 in 250826 control chromosomes. The observed variant frequency is approximately 92 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.289C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as likely benign (n=2) and VUS (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |