ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)

dbSNP: rs1754069364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090289 SCV001245737 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV003526031 SCV004281390 uncertain significance Congenital contractural arachnodactyly 2023-08-17 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FBN2 protein function. ClinVar contains an entry for this variant (Variation ID: 870702). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 289 of the FBN2 protein (p.Gly289Glu).

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