ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln)

gnomAD frequency: 0.00005  dbSNP: rs752842243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507555 SCV000603751 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing The FLNB c.2096G>A, p.Arg699Gln variant (rs752842243) has not been reported in the medical literature, but is listed in ClinVar (Variation ID: 439737). It is observed in the Genome Aggregation Database general population database at a frequency of 0.008 percent (22/277044 alleles). The arginine at position 699 is moderately conserved (Alamut v2.10), but computational algorithms (Align GVGD, PolyPhen-2, SIFT) predict that the variant has minimal impact on FLNB protein structure of function. Due to the limited information regarding the p.Arg669Gln variant, its clinical significance could not be determined with certainty. References: Genome Aggregation Database: http://gnomad.broadinstitute.org/
Labcorp Genetics (formerly Invitae), Labcorp RCV000507555 SCV001505493 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000507555 SCV001997228 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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