ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)

gnomAD frequency: 0.00146  dbSNP: rs78104547
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116958 SCV000202662 benign not specified 2014-02-14 criteria provided, single submitter clinical testing
Invitae RCV000357318 SCV000636573 benign Kleefstra syndrome 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312103 SCV000845889 benign Inborn genetic diseases 2016-04-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001705829 SCV001842549 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116958 SCV000151072 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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