ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)

gnomAD frequency: 0.00017  dbSNP: rs139206060
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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) RCV000271939 SCV000339798 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Invitae RCV000401622 SCV000636579 benign Kleefstra syndrome 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314021 SCV000849406 likely benign Inborn genetic diseases 2017-05-18 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 RCV000271939 SCV001848801 benign not provided 2019-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920105 SCV004727901 likely benign EHMT1-related condition 2024-01-08 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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