ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.309G>A (p.Ala103=)

gnomAD frequency: 0.00005  dbSNP: rs138824805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116962 SCV000151078 uncertain significance not provided 2013-11-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116962 SCV000863243 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Invitae RCV001089426 SCV001052634 likely benign Kleefstra syndrome 1 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321593 SCV002608203 likely benign Inborn genetic diseases 2019-11-13 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.

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