Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415003 | SCV000492899 | likely pathogenic | Cerebellar ataxia; Spasticity; Nystagmus; Strabismus; Postaxial hand polydactyly; Postaxial foot polydactyly; Ventriculomegaly | 2014-11-29 | criteria provided, single submitter | clinical testing | |
Institute for Genomic Statistics and Bioinformatics, |
RCV000856784 | SCV000999341 | pathogenic | Acrocallosal syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000856784 | SCV003305475 | uncertain significance | Acrocallosal syndrome | 2022-04-24 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 145 of the KIF7 protein (p.Tyr145Ser). This variant is present in population databases (rs758361736, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of acrocallosal syndrome (PMID: 29286531). ClinVar contains an entry for this variant (Variation ID: 374124). 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 expected to disrupt KIF7 protein function. 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. |