ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)

dbSNP: rs778784375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464703 SCV000553197 uncertain significance Congenital contractural arachnodactyly 2018-08-12 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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 tolerated, but these predictions have not been confirmed by published functional studies. 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. This sequence change replaces glycine with serine at codon 1239 of the FBN2 protein (p.Gly1239Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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