ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)

gnomAD frequency: 0.00013  dbSNP: rs368995503
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638391 SCV000759899 benign Kleefstra syndrome 1 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000638391 SCV000895979 uncertain significance Kleefstra syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001591423 SCV001826203 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458028 SCV002617898 likely benign Inborn genetic diseases 2017-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity RCV000638391 SCV003831862 uncertain significance Kleefstra syndrome 1 2019-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937922 SCV004752295 likely benign EHMT1-related condition 2024-02-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252232 SCV001427983 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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