ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn)

gnomAD frequency: 0.00004  dbSNP: rs774174988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177339 SCV000229186 uncertain significance not provided 2015-02-25 criteria provided, single submitter clinical testing
Invitae RCV001484691 SCV001689112 likely benign Kleefstra syndrome 1 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000177339 SCV001793872 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354457 SCV002653633 benign Inborn genetic diseases 2018-11-16 criteria provided, single submitter clinical testing This alteration is classified as 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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