ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro)

dbSNP: rs775954885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178655 SCV000230776 uncertain significance not provided 2014-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000178655 SCV005439310 likely pathogenic not provided 2024-06-11 criteria provided, single submitter clinical testing Has been reported in published literature as a germline variant in a patient with a reported diagnosis of Kabuki syndrome but neither detailed clinical information nor segregation data were provided in this report (PMID: 30459467); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30459467)

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