ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter)

dbSNP: rs794728334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005223101 SCV005865253 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2130*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of FBN1-related conditions (PMID: 29848614, 34916231). ClinVar contains an entry for this variant (Variation ID: 549342). For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663866 SCV000787226 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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