ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6361_6362insATACTTTTTCCCAGTTGG (p.Thr2121delinsAsnThrPheSerGlnLeuAla)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985178 SCV004801494 uncertain significance Kleefstra syndrome 2 2021-05-17 criteria provided, single submitter clinical testing The KMT2C c.6361delinsCATACTTTTTCCCAGTTGG p.(Thr2121delinsHisThrPheSerGlnLeuAla) variant is a complex variant resulting in an amino acid substitution at residue Thr2121 followed by an in-frame insertion of six amino acids. This variant is predicted to cause an elongation of the protein, however this has not been evaluated experimentally. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. Based on the limited evidence, the c.6361delinsCATACTTTTTCCCAGTTGG p.(Thr2121delinsHisThrPheSerGlnLeuAla) variant is classified as a variant of uncertain significance for Kleefstra syndrome.

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