ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1859G>A (p.Arg620Gln)

gnomAD frequency: 0.00002  dbSNP: rs534087251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541212 SCV001759183 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568252 SCV003459732 likely benign Kleefstra syndrome 1 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616752 SCV005117339 likely benign Inborn genetic diseases 2024-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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