Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001933489 | SCV002199650 | uncertain significance | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1530 of the FLNB protein (p.Tyr1530Cys). This variant is present in population databases (rs776043627, gnomAD 0.0009%). 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: 1426840). 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 with a negative predictive value of 95%. 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. |
| Diagnostics Services |
RCV002254360 | SCV002525565 | uncertain significance | Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Larsen syndrome | 2022-02-01 | criteria provided, single submitter | clinical testing | The c.4682A>G variant is present in gnomAD at a low frequency (MAF 0.00000398). In-silico pathogenicity prediction programs like PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious, however these predictions are confirmed by any published functional studies. The variant has not been identified or reported in diseased individuals. |