Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001901186 | SCV002165137 | uncertain significance | Acrocallosal syndrome | 2021-02-28 | 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. This variant has not been reported in the literature in individuals with KIF7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 897 of the KIF7 protein (p.Gly897Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |
| Ambry Genetics | RCV004988869 | SCV005611568 | uncertain significance | Inborn genetic diseases | 2024-07-30 | criteria provided, single submitter | clinical testing | The c.2689G>C (p.G897R) alteration is located in exon 13 (coding exon 12) of the KIF7 gene. This alteration results from a G to C substitution at nucleotide position 2689, causing the glycine (G) at amino acid position 897 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005006176 | SCV005642909 | uncertain significance | Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 | 2024-01-11 | criteria provided, single submitter | clinical testing |