Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003144040 | SCV003833051 | uncertain significance | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003778877 | SCV004607127 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2441499). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs765591592, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1514 of the FLNC protein (p.Thr1514Ala). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC protein function. 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. |