ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser)

gnomAD frequency: 0.00006  dbSNP: rs750654971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206036 SCV001377323 likely benign Kleefstra syndrome 1 2023-07-27 criteria provided, single submitter clinical testing
GeneDx RCV001567773 SCV001791520 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561209 SCV003654316 likely benign Inborn genetic diseases 2022-10-04 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.

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