ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)

dbSNP: rs397515753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035113 SCV000058753 pathogenic Marfan syndrome 2012-09-13 criteria provided, single submitter clinical testing The Gln351X variant in FBN1 has been reported in one individual with clinical fe atures of Marfan syndrome (Comeglio 2007). This nonsense variant leads to a prem ature termination codon at position 351, which is predicted to lead to a truncat ed or absent protein. Heterozygous loss of function of the FBN1 gene is an estab lished disease mechanism in Marfan syndrome. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Labcorp Genetics (formerly Invitae), Labcorp RCV001387167 SCV001587727 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-05-06 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: 42280). This premature translational stop signal has been observed in individuals with Marfan syndrome (PMID: 17657824, 24199744). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln351*) 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).

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