ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.311C>T (p.Ala104Val)

gnomAD frequency: 0.00026  dbSNP: rs142199482
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539572 SCV000636601 benign Kleefstra syndrome 1 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001709664 SCV001937144 benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243180 SCV003943952 likely benign Inborn genetic diseases 2023-05-23 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.
Revvity Omics, Revvity RCV000539572 SCV004237832 likely benign Kleefstra syndrome 1 2023-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979971 SCV004789024 likely benign EHMT1-related disorder 2024-02-16 no assertion criteria provided 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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