ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6401C>A (p.Pro2134His)

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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 RCV004794743 SCV005414474 uncertain significance Kleefstra syndrome 2 2024-11-18 criteria provided, single submitter clinical testing The variant NM_170606.3:c.6401C>A, p.Pro2134His results in the substitution of proline with histidine at position 2134 in the protein. Proline is a structurally rigid amino acid, and its substitution with histidine, which has a polar imidazole side chain, could affect the protein's structure and function. According to ACMG/AMP guidelines, based on evidence from PM2, this variant is classified as uncertain significance.

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