ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12674G>A (p.Arg4225Gln)

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Total submissions: 3
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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 RCV002294562 SCV002587048 uncertain significance Kleefstra syndrome 2 criteria provided, single submitter research
Ambry Genetics RCV003101697 SCV003567623 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.12674G>A (p.R4225Q) alteration is located in exon 51 (coding exon 51) of the KMT2C gene. This alteration results from a G to A substitution at nucleotide position 12674, causing the arginine (R) at amino acid position 4225 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004534044 SCV004716645 uncertain significance KMT2C-related disorder 2024-01-29 no assertion criteria provided clinical testing The KMT2C c.12674G>A variant is predicted to result in the amino acid substitution p.Arg4225Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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