ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13402C>T (p.Arg4468Trp)

dbSNP: rs761717148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756415 SCV001985163 uncertain significance not provided 2020-05-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002539866 SCV003477175 likely benign Kabuki syndrome 2023-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536278 SCV004716136 uncertain significance KMT2D-related disorder 2023-10-24 no assertion criteria provided clinical testing The KMT2D c.13402C>T variant is predicted to result in the amino acid substitution p.Arg4468Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49425086-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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