ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4222+1G>A

dbSNP: rs1060503498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459072 SCV000553165 likely pathogenic Congenital contractural arachnodactyly 2016-07-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, this variant is a donor splice site variant that has been reported in an affected individual and most likely will result in a truncated or absent protein. However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has been reported in the literature in an individual affected with congenital contracture arachnodactyly (PMID: 25046119). This sequence change affects a donor splice site in intron 32 of the FBN2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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