ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)

dbSNP: rs1555191203
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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 RCV000659764 SCV000781615 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000760314 SCV000890169 pathogenic not provided 2021-10-25 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 34553842, 23913813)
Institute of Human Genetics, University of Leipzig Medical Center RCV000659764 SCV001429476 likely pathogenic Kabuki syndrome 1 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV002530555 SCV003441257 pathogenic Kabuki syndrome 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547454). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 23913813). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2801*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750).

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