ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) (rs184814386)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116959 SCV000151073 uncertain significance not provided 2014-02-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116959 SCV000225704 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000259155 SCV000572826 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing The N622S variant in the EHMT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N622S variant is observed in 5/11578 (0.043%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The N622S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N622S as a variant of uncertain significance.
Invitae RCV000547981 SCV000636576 benign Kleefstra syndrome 1 2019-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718626 SCV000849490 likely benign History of neurodevelopmental disorder 2018-05-02 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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