ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)

gnomAD frequency: 0.00001  dbSNP: rs138303817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699284 SCV000827988 uncertain significance Congenital contractural arachnodactyly 2023-05-22 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: 576719). This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is present in population databases (rs138303817, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1172 of the FBN2 protein (p.Gly1172Ser).
Ambry Genetics RCV002458273 SCV002616385 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-06-29 criteria provided, single submitter clinical testing The p.G1172S variant (also known as c.3514G>A), located in coding exon 27 of the FBN2 gene, results from a G to A substitution at nucleotide position 3514. The glycine at codon 1172 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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