ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)

dbSNP: rs1555398668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000663606 SCV002025567 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS6, PP4
Invitae RCV001861730 SCV002296885 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-01-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FBN1 protein function. This variant has not been reported in the literature in individuals with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 549134). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 1051 of the FBN1 protein (p.Phe1051Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.
Center for Medical Genetics Ghent, University of Ghent RCV000663606 SCV000786926 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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