Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000813881 | SCV000954263 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-07-11 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 657301). This variant has not been reported in the literature in individuals affected with INF2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 891 of the INF2 protein (p.Arg891Trp). |
| Ambry Genetics | RCV004629345 | SCV005125007 | uncertain significance | Inborn genetic diseases | 2024-04-23 | criteria provided, single submitter | clinical testing | The c.2671C>T (p.R891W) alteration is located in exon 18 (coding exon 17) of the INF2 gene. This alteration results from a C to T substitution at nucleotide position 2671, causing the arginine (R) at amino acid position 891 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |