ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)

gnomAD frequency: 0.00489  dbSNP: rs144603232
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000429185 SCV000510682 likely benign not provided 2016-09-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000362161 SCV000636603 benign Kleefstra syndrome 1 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313877 SCV000849032 benign Inborn genetic diseases 2016-10-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000429185 SCV001837417 benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000429185 SCV005224865 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116963 SCV000151079 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
PreventionGenetics, part of Exact Sciences RCV003905114 SCV004720287 benign EHMT1-related disorder 2019-04-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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