ClinVar Miner

Submissions for variant NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002510399 SCV002819686 likely pathogenic Kleefstra syndrome 2 2022-12-19 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 16-38 in the KMT2C gene. A presumed nomenclature of c.(2652+1_2653-1)_(9262+1_9263-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the KMT2C gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD, structural variants dataset). To our knowledge, no occurrence of c.(2652+1_2653-1)_(9262+1_9263-1)del in individuals affected with Kleefstra Syndrome 2 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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