Key result
Re-evaluation of genetic variants in 161 patients with MFS identified a COL3A1 variant (c.1988G>T, p.Gly633Val), aiding in distinguishing connective tissue disorders with overlapping features.
Observational (n=161)
Re-evaluation of gene variants using ClinGen guidelines can help distinguish variants causing Marfan syndrome from those causing other connective tissue disorders with overlapping clinical features.
Background: germline variants reported as variants of uncertain significance (VUSs). Methods: reported in 161 patients with MFS. We checked the variants in the Human Genome Mutation Database, ClinVar, and VarSome databases and assessed their allele frequencies using the gnomAD database. Patients' clinical information was reviewed. Results: COL3A1 variant (c.1988G>T, p.Gly633Val). Conclusions: variants but also for distinguishing these variants from those that cause other connective tissue disorders with overlapping clinical features.
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Kim et al. (2023) conducted an observational in MFS (Marfan syndrome) (n=161). Re-evaluation of genetic variants using ClinGen Guidelines was evaluated. Re-evaluation of genetic variants in 161 patients with MFS identified a COL3A1 variant (c.1988G>T, p.Gly633Val), aiding in distinguishing connective tissue disorders with overlapping features.
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