ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)

gnomAD frequency: 0.00006  dbSNP: rs772286870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596195 SCV000702456 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084102 SCV001020771 benign Kleefstra syndrome 1 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000596195 SCV001941047 benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456297 SCV002737604 benign Inborn genetic diseases 2019-09-30 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.
PreventionGenetics, part of Exact Sciences RCV003905517 SCV004718285 likely benign EHMT1-related disorder 2022-04-04 no assertion criteria provided 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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