ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12917C>G (p.Pro4306Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV004794760 SCV005414500 uncertain significance Kleefstra syndrome 2 2024-11-18 criteria provided, single submitter clinical testing The variant NM_170606.3:c.12917C>G results in the substitution of proline with arginine at position 4306 in the protein. Proline is a unique amino acid due to its rigid structure, and its substitution with arginine, a larger and positively charged amino acid, could potentially impact the protein's structure or function. However, the clinical significance of this variant is unclear. Based on PM2 (low frequency or absent in population databases), this variant is classified as uncertain significance (VUS).

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