ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.5366C>T (p.Pro1789Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004729950 SCV005337107 uncertain significance KMT2E-related disorder 2024-09-03 no assertion criteria provided clinical testing The KMT2E c.5366C>T variant is predicted to result in the amino acid substitution p.Pro1789Leu. To our knowledge, this variant has not been reported in the literature. This variant is present in 1 allele out of 251,370 alleles 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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