ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001255840 SCV002012108 pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000977910.2). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255840 SCV001432464 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527631 SCV001738742 pathogenic Microcephaly and chorioretinopathy 1 2020-01-01 no assertion criteria provided clinical testing

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