Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192917 | SCV001361376 | likely pathogenic | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 2019-09-23 | criteria provided, single submitter | clinical testing | Variant summary: FBN1 c.1714+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site while one predicts the variant to weaken it. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251196 control chromosomes (gnomAD). c.1714+1G>T has been reported in the literature in an individual affected with Marfan Syndrome (Baumgartner_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV003142118 | SCV003807456 | likely pathogenic | Marfan syndrome | 2022-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderated |