ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)

dbSNP: rs1555191740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659758 SCV000781607 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000659758 SCV001192524 pathogenic Kabuki syndrome 1 2019-09-26 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP5
GeneDx RCV002255498 SCV002526497 pathogenic not provided 2021-12-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21280141)
PreventionGenetics, part of Exact Sciences RCV004533446 SCV004737757 pathogenic KMT2D-related disorder 2024-02-03 criteria provided, single submitter clinical testing The KMT2D c.7933C>T variant is predicted to result in premature protein termination (p.Arg2645*). This variant has been reported in multiple individuals with Kabuki syndrome (reported as de novo, Paulussen et al. 2011. PubMed ID: 21280141; Table S2, Bowling et al. 2022. PubMed ID: 34930662; Levy et al. 2022. PubMed ID: 35904121). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in KMT2D are expected to be pathogenic. This variant is interpreted as pathogenic.

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