ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)

gnomAD frequency: 0.00001  dbSNP: rs535351117
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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 RCV000659780 SCV000781632 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001466229 SCV001670229 likely benign Kabuki syndrome 2023-10-24 criteria provided, single submitter clinical testing
GeneDx RCV002279478 SCV002567656 likely benign not provided 2021-10-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004544920 SCV004795684 uncertain significance KMT2D-related disorder 2023-11-29 criteria provided, single submitter clinical testing The KMT2D c.10467G>T variant is predicted to result in the amino acid substitution p.Gln3489His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of South Asian descent in gnomAD, which may be too common for a primary cause of disease. 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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