ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6512-3T>C

gnomAD frequency: 0.00001  dbSNP: rs764271022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242475 SCV000308633 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001589253 SCV001823394 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Invitae RCV002518618 SCV003490573 uncertain significance Congenital contractural arachnodactyly 2022-09-26 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. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 258522). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 51 of the FBN2 gene. It does not directly change the encoded amino acid sequence of the FBN2 protein. It affects a nucleotide within the consensus splice site.

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