ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.532G>C (p.Val178Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448875 SCV004176690 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2023-03-01 criteria provided, single submitter clinical testing The missense c.532G>C(p.Val178Leu) variant in KIF11 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Val178Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Val178Leu in KIF11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 178 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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