ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3217+1G>A

dbSNP: rs2126913719
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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 RCV001877064 SCV002128393 uncertain significance Congenital contractural arachnodactyly 2021-09-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 24 of the FBN2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FBN2 cause disease. 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. This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is not present in population databases (ExAC no frequency).

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