ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)

dbSNP: rs1389689622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550456 SCV000630223 uncertain significance Congenital contractural arachnodactyly 2017-03-27 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1205 of the FBN2 protein (p.Ser1205Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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