ClinVar Miner

Submissions for variant GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000993742 SCV001146931 likely pathogenic See cases 2019-02-07 no assertion criteria provided research This heterozygous 2Mb deletion was identified by our study in one individual with intellectual disabilities, autism, and developmental delay. This deletion covers less than 15 protein-coding RefSeq genes. The variant is assumed de novo in the individual, but maternity and paternity are not confirmed. This deletion overlaps with the KMT2E variant which is reported to have, at least 29 de novo variants, of which 15 have confirmed maternity and paternity. It is of note that loss of function of the KMT2E gene in autosomal dominant disease has not yet been established based on the criteria laid out in Tayoun, 2018 (PMID: 30192042). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.

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