ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.4130_4132delinsT (p.Asp1377fs)

dbSNP: rs2536523348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003982806 SCV004800223 likely pathogenic KMT2E-related disorder 2024-02-19 no assertion criteria provided clinical testing The KMT2E c.4130_4132delinsT variant is predicted to result in a frameshift and premature protein termination (p.Asp1377Valfs*8). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in KMT2E are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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