ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11156A>T (p.Lys3719Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005054993 SCV005688732 uncertain significance Kleefstra syndrome 2 2024-02-01 criteria provided, single submitter clinical testing The KMT2C c.11156A>T (p.Lys3719Ile) variant, to our knowledge, has not been reported in the medical literature and is only observed on 2/251,484 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors suggest that the variant does not impact KMT2C function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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