ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.1A>G (p.Met1Val)

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Total submissions: 2
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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, Hôpital Robert Debré RCV001255743 SCV001432318 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability no assertion criteria provided clinical testing

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