ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter)

dbSNP: rs1554846766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579181 SCV000681007 pathogenic not provided 2021-03-13 criteria provided, single submitter clinical testing 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000579181 SCV001248990 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529047 SCV003307785 pathogenic Kleefstra syndrome 1 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 489033). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln170*) in the EHMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EHMT1 are known to be pathogenic (PMID: 16826528, 19264732).
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002529047 SCV003836705 pathogenic Kleefstra syndrome 1 2021-01-18 criteria provided, single submitter clinical testing

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