ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14552G>A (p.Cys4851Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283014 SCV002571158 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Clinical Genomics Laboratory, Washington University in St. Louis RCV005054411 SCV005688724 uncertain significance Kleefstra syndrome 2 2024-01-04 criteria provided, single submitter clinical testing The KMT2C c.14552G>A (p.Cys4851Tyr) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to KMT2C function. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by one submitter. 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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