ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.278A>T (p.Asp93Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133917 SCV003810116 uncertain significance Kleefstra syndrome 2 2023-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529241 SCV004105129 uncertain significance KMT2C-related disorder 2023-08-09 criteria provided, single submitter clinical testing The KMT2C c.278A>T variant is predicted to result in the amino acid substitution p.Asp93Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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