ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)

dbSNP: rs869025414
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Total submissions: 4
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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, University of Ghent RCV000208200 SCV000787303 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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