ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His)

gnomAD frequency: 0.00003  dbSNP: rs370899148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320503 SCV001511292 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2197 of the KMT2A protein (p.Arg2197His). This variant is present in population databases (rs370899148, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with KMT2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020849). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KMT2A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001320503 SCV001909845 benign not provided 2019-04-18 criteria provided, single submitter clinical testing

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