ClinVar Miner

Submissions for variant NC_000007.14:g.152052676_152295696del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839258 SCV002099230 pathogenic Kleefstra syndrome 2 2021-04-13 criteria provided, single submitter clinical testing The de novo ~243kb deletion deletes the last 53 exons (exon 7-59) of the KMT2C gene. The majority of pathogenic variants in KMT2C are nonsense or frameshift [PMID: 29069077; PMID: 32366967], suggesting loss-of-function is the likely mechanism of the disease. ClinGen Dosage Sensitivity curation [https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13726] indicates that the KMT2C gene has a haploinsufficiency score of 3 (i.e.,sufficient evidence for haploinsufficiency). Based on the available evidence, this de novo ~243kb deletion is classified as pathogenic.

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