ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6998-13A>G

dbSNP: rs2042989627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310218 SCV001499827 likely pathogenic Marfan syndrome 2021-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770624 SCV004576396 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-17 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1012213). This variant has been observed in individual(s) with thoracic aortic aneurysm and dissection (PMID: 30739908). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 57 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein.

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