ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)

dbSNP: rs80356517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília RCV000020443 SCV000223901 pathogenic Spondylocarpotarsal synostosis syndrome 2015-04-01 criteria provided, single submitter research
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000020443 SCV001150104 pathogenic Spondylocarpotarsal synostosis syndrome 2019-05-27 criteria provided, single submitter clinical testing
DASA RCV002298447 SCV002588783 pathogenic FLNB-Related Spectrum Disorders 2022-11-03 criteria provided, single submitter clinical testing The c.1945C>T;p.Arg649* variant creates a premature translational stop signal in the FLNB gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 21280; PMID: 26380986) - PS4. The variant is present at low allele frequencies population databases (rs80356517 – gnomAD 0.00003983%; ABraOM 0.000427 frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
GeneReviews RCV000020443 SCV000040859 not provided Spondylocarpotarsal synostosis syndrome no assertion provided literature only

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