ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)

gnomAD frequency: 0.00016  dbSNP: rs377747403
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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 RCV000659768 SCV000781619 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001481332 SCV001685674 likely benign Kabuki syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV002225706 SCV002504494 likely benign not provided 2019-04-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004533447 SCV004121018 uncertain significance KMT2D-related disorder 2022-10-18 criteria provided, single submitter clinical testing The KMT2D c.8579G>A variant is predicted to result in the amino acid substitution p.Arg2860His. This variant was reported in an individual with heterotaxy syndrome; however, no additional evidence was provided to support causation, and this gene-disease association is provisional (Liang et al 2020. PubMed ID: 32738303). This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49432560-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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