ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr)

gnomAD frequency: 0.00012  dbSNP: rs142658261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002202536 SCV002359551 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418365 SCV004106411 uncertain significance KMT2A-related disorder 2023-06-02 criteria provided, single submitter clinical testing The KMT2A c.3722G>C variant is predicted to result in the amino acid substitution p.Ser1241Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African 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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