ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4337-5C>G

gnomAD frequency: 0.00003  dbSNP: rs370959127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871660 SCV001013346 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183004 SCV001348650 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183004 SCV002632157 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-21 criteria provided, single submitter clinical testing The c.4337-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 35 in the FBN1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003074 SCV004830074 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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