ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14236C>T (p.Arg4746Trp)

gnomAD frequency: 0.00001  dbSNP: rs371377859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934155 SCV002215603 likely benign Kabuki syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538657 SCV004717254 uncertain significance KMT2D-related disorder 2023-10-26 no assertion criteria provided clinical testing The KMT2D c.14236C>T variant is predicted to result in the amino acid substitution p.Arg4746Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00090% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49422859-G-A). 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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