ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys)

dbSNP: rs940585956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198350 SCV001369254 uncertain significance Atelosteogenesis type III 2019-10-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770217 SCV004665099 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNB protein function. ClinVar contains an entry for this variant (Variation ID: 931610). This variant has not been reported in the literature in individuals affected with FLNB-related conditions. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 806 of the FLNB protein (p.Thr806Lys).

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