ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3])

dbSNP: rs398123725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995576 SCV001149819 likely pathogenic Kabuki syndrome 1 2019-02-22 criteria provided, single submitter clinical testing
Invitae RCV002549914 SCV003441124 pathogenic Kabuki syndrome 2022-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has been observed in individual(s) with Kabuki syndrome (PMID: 21658225, 23913813, 28884922, 33619735). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.15163_15168dup, results in the insertion of 2 amino acid(s) of the KMT2D protein (p.Asp5055_Leu5056dup), but otherwise preserves the integrity of the reading frame.

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