ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs)

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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 RCV003315127 SCV004014730 likely pathogenic Wiedemann-Steiner syndrome 2023-04-19 criteria provided, single submitter clinical testing The KMT2A c.9684del (p.Leu3229TyrfsTer27) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.9684del (p.Leu3229TyrfsTer27) variant is classified as likely pathogenic for Wiedemann-Steiner syndrome.

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