ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.3989T>G (p.Leu1330Ter)

dbSNP: rs1246539243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002723943 SCV003565253 pathogenic Inborn genetic diseases 2021-08-19 criteria provided, single submitter clinical testing The c.3989T>G (p.L1330*) alteration, located in exon 26 (coding exon 26) of the KMT2C gene, consists of a T to G substitution at nucleotide position 3989. This changes the amino acid from a leucine (L) to a stop codon at amino acid position 1330. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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