ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)

gnomAD frequency: 0.00006  dbSNP: rs143155406
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817768 SCV000958351 benign Kleefstra syndrome 1 2023-11-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000817768 SCV001429113 uncertain significance Kleefstra syndrome 1 2017-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001534159 SCV001751061 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390668 SCV002700536 benign Inborn genetic diseases 2019-06-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003955527 SCV004785884 likely benign EHMT1-related condition 2020-12-23 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).

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