ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) (rs886043497)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725904 SCV000701187 likely pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000594764 SCV000781684 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000594764 SCV000890094 pathogenic Kabuki syndrome 1 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000808309 SCV000948413 pathogenic Kabuki syndrome 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 5154 of the KMT2D protein (p.Arg5154Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Kabuki syndrome; in several of these cases, it was observed to be de novo (PMID: 21607748, 28884922, 25755104, 27302555, 23913813). ClinVar contains an entry for this variant (Variation ID: 286834). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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