Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002995775 | SCV003295672 | uncertain significance | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-11-28 | criteria provided, single submitter | clinical testing | 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 FLNA protein function. This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 930 of the FLNA protein (p.Asp930Asn). |
| ARUP Laboratories, |
RCV003111612 | SCV003799643 | uncertain significance | not provided | 2022-06-22 | criteria provided, single submitter | clinical testing | The FLNA c.2788G>A; p.Asp930Asn variant (rs2067715380), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The aspartate at codon 930 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.7). Due to limited information, the clinical significance of this variant is uncertain at this time. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003324060 | SCV004029231 | uncertain significance | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003111612 | SCV005396441 | uncertain significance | not provided | 2024-05-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |