ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)

dbSNP: rs1352478541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595903 SCV000705849 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530696 SCV004739547 likely pathogenic FBN1-related disorder 2024-03-01 criteria provided, single submitter clinical testing The FBN1 c.4172G>T variant is predicted to result in the amino acid substitution p.Cys1391Phe. This variant was reported within individuals presenting with Marfan syndrome, however inheritance information was not provided (Rybczynski et al. 2008. PubMed ID: 19012347; Supplementary Data, Stark et al. 2020. PubMed ID: 32679894). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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