ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.378C>T (p.Cys126=)

gnomAD frequency: 0.00007  dbSNP: rs144410933
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031178 SCV002310257 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing This sequence change affects codon 126 of the FBLN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBLN1 protein. This variant is present in population databases (rs144410933, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FBLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1521254). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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