ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1752G>T (p.Lys584Asn)

dbSNP: rs1064796992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487082 SCV000574294 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The K584N variant in the EHMT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K584N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K584N as a variant of uncertain significance.

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