ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)

gnomAD frequency: 0.00005  dbSNP: rs794727601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177927 SCV000229888 uncertain significance not provided 2014-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000685344 SCV000812822 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 197022). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is present in population databases (rs794727601, gnomAD no frequency). This sequence change affects codon 1582 of the FBN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site.
Color Diagnostics, LLC DBA Color Health RCV001185487 SCV001351710 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996571 SCV004814696 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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