ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) (rs1470699812)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine, Nationwide Children's Hospital RCV000735862 SCV000863953 likely pathogenic Patellar hypoplasia; Knee dislocation; Limited knee flexion/extension 2018-12-21 criteria provided, single submitter research The c.5375_5377delAGG variant is a 3-bp deletion predicted to remove a highly conserved glutamic acid residue at position 1792 of the filamin B protein. This variant maps to one of numerous filamin domains in FLNB, but the local sequence context is not repetitive. Further, pathogenic mutations in two immediately adjacent filamin domains have been reported to the ClinVar database. In the gnomAD database, two out of 125,709 individuals are reported to be heterozygous for the c.5375_5377delAGG variant; however, only one of them has sequence data available for review. This variant segregates with disease in multiple affected family members. We therefore interpret it as likely pathogenic.

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