ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4747+5G>C

dbSNP: rs193922209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029743 SCV000052396 uncertain Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631976 SCV000753079 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-17 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. This variant disrupts the c.4747+5G nucleotide in the FBN1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 10189089, 17657824). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 36081). This variant has been observed in individual(s) with FBN1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 38 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000029743 SCV000781377 pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing

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