Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035159 | SCV000058800 | likely pathogenic | Marfan syndrome | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000035159 | SCV000678237 | pathogenic | Marfan syndrome | 2017-08-01 | criteria provided, single submitter | clinical testing | FBN1 NM_000138.4 exon25 p.Tyr1004* (c.3012C>G): This variant has not been previously reported in the literature, but has been identified by our laboratory as de novo in 1 individual with a clinical suspicion of Marfan syndrome. This variant is not present in large control databases. This variant is present in ClinVar (Variant ID:42324). This variant is predicted to cause a stopgain at this codon, resulting in protein truncation or loss of allelic expression through nonsense-mediated mRNA decay. Loss of function variants are a known mechanism of disease for this gene (Dietz, PMID: 20301510). In summary, this variant is classified as pathogenic based on the predicted impact to the protein. |
Gene |
RCV000627218 | SCV000748206 | pathogenic | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29543232, 24793577) |
Labcorp Genetics |
RCV001852707 | SCV002236739 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2021-06-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of FBN1-related conditions (PMID: 24793577, 29543232). ClinVar contains an entry for this variant (Variation ID: 42324). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1004*) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). |
Centre for Genomic and Experimental Medicine, |
RCV000610725 | SCV000731217 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | no assertion criteria provided | research | ||
Center for Medical Genetics Ghent, |
RCV000035159 | SCV000786911 | pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |