ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)

dbSNP: rs1588770875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825019 SCV000966213 pathogenic Kleefstra syndrome 1 2018-10-23 criteria provided, single submitter clinical testing
GeneDx RCV004761838 SCV005370612 pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing Observed in an individual from a cohort of individuals with Kleefstra syndrome (Levy et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35904121)

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