Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Phosphorus, |
RCV000578070 | SCV000679845 | uncertain significance | Primary dilated cardiomyopathy | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000577934 | SCV000679846 | uncertain significance | Distal myopathy with posterior leg and anterior hand involvement | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578011 | SCV000679847 | uncertain significance | Hypertrophic cardiomyopathy | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578090 | SCV000679848 | uncertain significance | Myofibrillar myopathy 5 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000577958 | SCV000679849 | uncertain significance | Hypertrophic cardiomyopathy 26 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001308487 | SCV001497942 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1522 of the FLNC protein (p.Gln1522His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 488164). 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. |
Ce |
RCV004584762 | SCV005075056 | uncertain significance | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | FLNC: PM2 |