ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)

dbSNP: rs1555400595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802144 SCV000941962 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528301 SCV004111068 pathogenic FBN1-related disorder 2023-04-12 criteria provided, single submitter clinical testing The FBN1 c.1098G>C variant is predicted to result in the amino acid substitution p.Trp366Cys. This variant was reported in an individual from an aortopathy cohort (Yang et al. 2016. PubMed ID: 27611364). A different nucleotide change resulting in the same amino acid substitution, c.1098G>T (p.Trp366Cys), has been reported in multiple individuals with Marfan syndrome (Fang et al. 2017. PubMed ID: 28855619; Table S1A, Meester et al. 2022. PubMed ID: 35058154). Other different nucleotide substitutions affecting the same amino acid (p.Trp366Ser and p.Trp366Leu) have also been reported in individuals with Marfan syndrome (Table S1, Aalberts et al. 2014. PubMed ID: 24161884; Table S1, Becerra-Muñoz et al. 2018. PubMed ID: 29357934). Missense variants that create or destroy a cysteine residue in FBN1 are commonly documented to cause Marfan syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1335/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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