ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)

gnomAD frequency: 0.00004  dbSNP: rs147956904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810592 SCV000950809 likely benign Kleefstra syndrome 1 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440746 SCV002748759 likely benign Inborn genetic diseases 2018-03-20 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.
GeneDx RCV003318642 SCV004023038 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003318642 SCV004164077 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing EHMT1: BS2

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