ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4918G>C (p.Glu1640Gln)

dbSNP: rs373510851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001374603 SCV001571447 uncertain significance Kleefstra syndrome 2 2020-04-01 criteria provided, single submitter research The KMT2C c.4918G>C (p.Glu1640Gln) is a missense variant that changes a single amino acid in the encoded protein from glutamic acid to glutamine. This is a rare variant observed in the heterozygous state in 2 out of 251,402 alleles (0.0008%) from unselected individuals in the general population and is not reported in homozygosity. This variant has not been previously reported with disease in the literature. Although nearly all KMT2C variants reported to date in association with its neurodevelopmental disorder are de novo protein truncating variants, the effect of this missense variant on protein function is unknown. This variant has conflicting predictions of pathogenicity by in silico tools and its effect on protein function is unknown. This is considered a variant of uncertain significance.
Institute of Human Genetics, University Hospital Muenster RCV004584438 SCV002506444 uncertain significance See cases 2021-12-17 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,BP1

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