ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys)

gnomAD frequency: 0.00002  dbSNP: rs753105081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193271 SCV000247284 likely benign not specified 2019-01-14 criteria provided, single submitter clinical testing
Invitae RCV001219536 SCV001391480 benign Kleefstra syndrome 1 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020315 SCV004862373 likely benign Inborn genetic diseases 2023-09-23 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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