ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)

dbSNP: rs1597533619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794549 SCV000933964 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1910 of the FBN1 protein (p.Gly1910Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Marfan syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 641330). 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) performed at Invitae indicates that this missense variant is expected to disrupt FBN1 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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