ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)

gnomAD frequency: 0.00003  dbSNP: rs369949841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004789507 SCV001446312 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Larsen syndrome 2020-10-13 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 47 of the FLNB gene that results in the amino acid substitution of Isoleucine for Valine at codon 2606 was detected. The observed variant c.7816G>A (p.Val2606Ile) has not been reported in the 1000 genomes and has a minor allele frequency of 0.004% in the gnomAD database. The in silico prediction of the variant is damaging by LRT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542853 SCV002935224 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2575 of the FLNB protein (p.Val2575Ile). This variant is present in population databases (rs369949841, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FLNB-related conditions. ClinVar contains an entry for this variant (Variation ID: 986736). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FLNB protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002541633 SCV003547969 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.7723G>A (p.V2575I) alteration is located in exon 46 (coding exon 46) of the FLNB gene. This alteration results from a G to A substitution at nucleotide position 7723, causing the valine (V) at amino acid position 2575 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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