ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1513G>A (p.Asp505Asn)

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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 RCV004794745 SCV005414477 uncertain significance Kleefstra syndrome 2 2024-11-18 criteria provided, single submitter clinical testing The variant NM_170606.3:c.1513G>A, p.Asp505Asn results in the substitution of aspartic acid with asparagine at position 505 in the protein. Aspartic acid is a negatively charged amino acid, while asparagine is neutral. This substitution may affect the protein's structure or function due to the loss of charge. Based on ACMG/AMP guidelines, PM2 (absent in population databases), the variant is classified as uncertain significance.

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