ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)

dbSNP: rs187553035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247812 SCV000317908 pathogenic Cardiovascular phenotype 2012-11-08 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000664013 SCV000787400 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
deCODE genetics, Amgen RCV000664013 SCV004022205 likely pathogenic Marfan syndrome 2023-07-21 no assertion criteria provided research The variant NM_000138.5:c.8149G>T (chr15:48412646) in FBN1 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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