ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)

dbSNP: rs1555398152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174728 SCV001338007 likely pathogenic Familial aortopathy 2020-01-06 criteria provided, single submitter clinical testing Variant summary: FBN1 c.3915C>A (p.Cys1305X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251330 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3915C>A in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663673 SCV000787004 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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