ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.216C>A (p.His72Gln)

dbSNP: rs374930132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248374 SCV001421856 likely benign Kleefstra syndrome 1 2023-06-27 criteria provided, single submitter clinical testing
New York Genome Center RCV001248374 SCV001761091 uncertain significance Kleefstra syndrome 1 2020-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002430051 SCV002731375 uncertain significance Inborn genetic diseases 2018-08-27 criteria provided, single submitter clinical testing The p.H72Q variant (also known as c.216C>A), located in coding exon 3 of the EHMT1 gene, results from a C to A substitution at nucleotide position 216. The histidine at codon 72 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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.

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