Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431045 | SCV000525086 | uncertain significance | not provided | 2022-05-09 | 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: 26174511) |
Fulgent Genetics, |
RCV000764000 | SCV000894951 | uncertain significance | Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861543 | SCV002281734 | uncertain significance | Acrocallosal syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 828 of the KIF7 protein (p.Val828Met). This variant is present in population databases (rs143915145, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of acrocallosal syndrome (PMID: 26174511). ClinVar contains an entry for this variant (Variation ID: 384330). 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 KIF7 protein function with a negative predictive value of 80%. 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. |
Daryl Scott Lab, |
RCV001861543 | SCV002515348 | uncertain significance | Acrocallosal syndrome | 2022-02-01 | criteria provided, single submitter | clinical testing |