ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.11632_11633insG (p.Met3878fs)

dbSNP: rs1064796813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478495 SCV000573911 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing The c.11632_11633insG variant in the KMT2C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.11632_11633insG variant causes a frameshift starting with codon Methionine 3878, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Met3878SerfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.11632_11633insG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.11632_11633insG as a likely pathogenic variant, which may be related to the developmental delays reported in this individual.

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