ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2025C>T (p.Ala675=)

gnomAD frequency: 0.00014  dbSNP: rs367662089
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315490 SCV000849442 likely benign Inborn genetic diseases 2017-05-03 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.
Invitae RCV001416577 SCV001618760 likely benign Kleefstra syndrome 1 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001592920 SCV001816291 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001416577 SCV002797271 likely benign Kleefstra syndrome 1 2022-05-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001592920 SCV004164069 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing EHMT1: BP4, BP7

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