Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001377705 | SCV001575098 | pathogenic | not provided | 2023-07-14 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the KIF11 mRNA. The next in-frame methionine is located at codon 70. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (PMID: 25115524, 26566857). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 977833). This variant disrupts a region of the KIF11 protein in which other variant(s) (p.Arg26Gly) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Service de Génétique Moléculaire, |
RCV001255743 | SCV001432318 | likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | no assertion criteria provided | clinical testing |