ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)

dbSNP: rs1422752351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638437 SCV000759952 pathogenic Kabuki syndrome 2021-12-18 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: 531888). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 21671394, 27302555). 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 sequence change creates a premature translational stop signal (p.Arg5448*) 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).
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659834 SCV000781697 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV000659834 SCV001572981 pathogenic Kabuki syndrome 1 2020-04-30 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000659834 SCV001749571 not provided Kabuki syndrome 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 09-02-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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