ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10288T>G (p.Cys3430Gly)

gnomAD frequency: 0.00001  dbSNP: rs373345566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794611 SCV002032458 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Invitae RCV001794611 SCV002156179 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 3430 of the KMT2A protein (p.Cys3430Gly). This variant is present in population databases (rs373345566, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. 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: 1327669). 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.
PreventionGenetics, part of Exact Sciences RCV003968556 SCV004779099 likely benign KMT2A-related disorder 2023-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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