ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)

gnomAD frequency: 0.00002  dbSNP: rs200947960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770982 SCV001993954 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002488551 SCV002784282 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536288 SCV004109868 uncertain significance FLNB-related disorder 2023-04-24 criteria provided, single submitter clinical testing The FLNB c.3325G>A variant is predicted to result in the amino acid substitution p.Val1109Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-58109018-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001770982 SCV004510342 likely benign not provided 2024-10-20 criteria provided, single submitter clinical testing

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