ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15077C>T (p.Pro5026Leu)

gnomAD frequency: 0.00001  dbSNP: rs957154857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953204 SCV002217692 benign Kabuki syndrome 2023-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694031 SCV005191795 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004542193 SCV004791592 uncertain significance KMT2D-related disorder 2024-02-07 no assertion criteria provided clinical testing The KMT2D c.15077C>T variant is predicted to result in the amino acid substitution p.Pro5026Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of European (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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