ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1331G>A (p.Arg444Gln)

gnomAD frequency: 0.00001  dbSNP: rs760928040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001327986 SCV001513580 uncertain significance Kleefstra syndrome 2 2020-06-30 criteria provided, single submitter clinical testing The KMT2Cvariant c.1331G>A (p.(Arg444Gln)) is found at a population frequency of 0.0004% in the gnomAD database, but not in the homozygous state. In summary and using ACMG criteria PM2, PP3, BP1 we classify this variant as variant of unknown clinical significance.

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