ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12806T>C (p.Met4269Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003839416 SCV004638544 benign not provided 2023-04-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690487 SCV005184469 uncertain significance not specified 2024-05-28 criteria provided, single submitter clinical testing Variant summary: KMT2C c.12806T>C (p.Met4269Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.1e-06 in 164358 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.12806T>C in individuals affected with Kleefstra Syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.

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