Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208200 | SCV000263909 | likely pathogenic | Marfan syndrome | 2015-04-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000802453 | SCV000942285 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 222612). This premature translational stop signal has been observed in individual(s) with Marfan Syndrome (PMID: 19293843). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2381*) 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). |
Ambry Genetics | RCV002363041 | SCV002662306 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-12 | criteria provided, single submitter | clinical testing | The p.Q2381* pathogenic mutation (also known as c.7141C>T), located in coding exon 57 of the FBN1 gene, results from a C to T substitution at nucleotide position 7141. This changes the amino acid from a glutamine to a stop codon within coding exon 57. This variant has been detected in an individual reported to have Marfan syndrome (Stheneur C et al. Eur J Hum Genet, 2009 Sep;17:1121-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Center for Medical Genetics Ghent, |
RCV000208200 | SCV000787303 | pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |