ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)

dbSNP: rs1561757902
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704049 SCV000832982 uncertain significance Congenital contractural arachnodactyly 2018-04-23 criteria provided, single submitter clinical testing 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 and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with FBN2-related disease. This sequence change replaces glycine with aspartic acid at codon 1982 of the FBN2 protein (p.Gly1982Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency).

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