Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000791887 | SCV000931154 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-03-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with INF2-related conditions. 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 INF2 protein function. ClinVar contains an entry for this variant (Variation ID: 639154). This variant is present in population databases (rs761939643, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 636 of the INF2 protein (p.Lys636Arg). |
| Ambry Genetics | RCV002406725 | SCV002723727 | uncertain significance | Inborn genetic diseases | 2020-08-07 | criteria provided, single submitter | clinical testing | The p.K636R variant (also known as c.1907A>G), located in coding exon 9 of the INF2 gene, results from an A to G substitution at nucleotide position 1907. The lysine at codon 636 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |