ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.704C>G (p.Ser235Cys)

dbSNP: rs387906643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000022639 SCV001429226 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513169 SCV003439632 likely pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 235 of the KIF11 protein (p.Ser235Cys). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 KIF11 protein function. ClinVar contains an entry for this variant (Variation ID: 29773). This missense change has been observed in individual(s) with clinical features of KIF11-related conditions (PMID: 22284827, 34128965). In at least one individual the variant was observed to be de novo.
OMIM RCV000022639 SCV000043928 pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2012-02-10 no assertion criteria provided literature only

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