ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) (rs398123724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080143 SCV000112038 uncertain significance not provided 2013-03-13 criteria provided, single submitter clinical testing
Invitae RCV000638430 SCV000759945 pathogenic Kabuki syndrome 2018-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 5048 of the KMT2D protein (p.Arg5048Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with Kabuki syndrome including at least 5 individuals in whom the variant have been confirmed to be de novo (PMID: 21671394, 27302555, 25972376, 23913813). It has also been found in a mother and daughter with Kabuki syndrome (PMID: 19625956, 22126750). ClinVar contains an entry for this variant (Variation ID: 94180). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Shaikh Laboratory, University of Colorado RCV000172955 SCV000207401 likely pathogenic Kabuki syndrome 1 2015-02-04 no assertion criteria provided research

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