ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6997C>T (p.Pro2333Ser)

gnomAD frequency: 0.00001  dbSNP: rs370380369
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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 RCV001947684 SCV002188733 likely benign Kabuki syndrome 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538612 SCV004726971 uncertain significance KMT2D-related disorder 2024-02-27 no assertion criteria provided clinical testing The KMT2D c.6997C>T variant is predicted to result in the amino acid substitution p.Pro2333Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0045% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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