ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser)

gnomAD frequency: 0.00003  dbSNP: rs754380060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315463 SCV000849377 uncertain significance Inborn genetic diseases 2017-04-17 criteria provided, single submitter clinical testing The p.G411S variant (also known as c.1231G>A), located in coding exon 7 of the EHMT1 gene, results from a G to A substitution at nucleotide position 1231. The glycine at codon 411 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001445722 SCV001648756 likely benign Kleefstra syndrome 1 2021-01-13 criteria provided, single submitter clinical testing

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