ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)

gnomAD frequency: 0.00034  dbSNP: rs144949902
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725447 SCV000337015 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000374563 SCV000594520 uncertain significance not specified 2015-09-17 criteria provided, single submitter clinical testing
Invitae RCV001085933 SCV000636587 likely benign Kleefstra syndrome 1 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000725447 SCV001907062 benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429220 SCV002741517 benign Inborn genetic diseases 2019-05-12 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.
CeGaT Center for Human Genetics Tuebingen RCV000725447 SCV004164052 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EHMT1: BP4
PreventionGenetics, part of Exact Sciences RCV003909961 SCV004724496 likely benign EHMT1-related disorder 2019-07-29 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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