ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)

gnomAD frequency: 0.00001  dbSNP: rs757331255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419456 SCV002678199 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-08 criteria provided, single submitter clinical testing The p.P2700S variant (also known as c.8098C>T), located in coding exon 64 of the FBN1 gene, results from a C to T substitution at nucleotide position 8098. The proline at codon 2700 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481294 SCV004227411 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing BP4, PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV003776479 SCV004568889 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005765 SCV004827213 uncertain significance Marfan syndrome 2023-06-28 criteria provided, single submitter clinical testing

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