ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)

gnomAD frequency: 0.00001  dbSNP: rs749976725
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500187 SCV000594523 likely benign not specified 2017-12-27 criteria provided, single submitter clinical testing
Invitae RCV001857093 SCV002297045 benign Kleefstra syndrome 1 2022-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002060111 SCV002498085 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403164 SCV004111749 uncertain significance EHMT1-related condition 2023-08-16 criteria provided, single submitter clinical testing The EHMT1 c.2755G>A variant is predicted to result in the amino acid substitution p.Val919Met. 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 (http://gnomad.broadinstitute.org/variant/9-140705955-G-A). 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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