ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=)

dbSNP: rs2132793967
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726715 SCV001961038 uncertain significance Kleefstra syndrome 1 2021-07-26 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV001726715 SCV004697667 pathogenic Kleefstra syndrome 1 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV001726715 SCV005045854 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
GeneDx RCV004762170 SCV005372188 likely pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing Identified in a patient with Kleefstra syndrome, however, detailed clinical and segregation information were not provided (PMID: 35904121); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 35904121)
PreventionGenetics, part of Exact Sciences RCV003941106 SCV004759465 uncertain significance EHMT1-related disorder 2023-11-21 no assertion criteria provided clinical testing The EHMT1 c.3459C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to impact splicing and has been reported in an individual with Kleefstra syndrome (Supplementary Table 1, Levy et al. 2022. PubMed ID: 35904121). This variant has not been reported in a large population database, indicating this variant is rare. 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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