ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)

dbSNP: rs772818240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306443 SCV001495815 uncertain significance Congenital contractural arachnodactyly 2020-09-11 criteria provided, single submitter clinical testing This sequence change affects codon 2620 of the FBN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FBN2 protein. This variant is present in population databases (rs772818240, ExAC 0.006%). This variant has not been reported in the literature in individuals with FBN2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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