Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001584666 | SCV001812636 | uncertain significance | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21552264) |
Invitae | RCV001882703 | SCV002272933 | uncertain significance | Acrocallosal syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 641 of the KIF7 protein (p.Arg641Gly). This variant is present in population databases (rs137905815, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1211801). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects KIF7 function (PMID: 21552264). 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. |
Fulgent Genetics, |
RCV002476888 | SCV002787714 | uncertain significance | Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 | 2021-09-11 | criteria provided, single submitter | clinical testing |