ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)

gnomAD frequency: 0.00001  dbSNP: rs758361736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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, University Hospital Bonn 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.

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