ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln)

gnomAD frequency: 0.00002  dbSNP: rs762950368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535454 SCV000654341 likely benign Developmental and epileptic encephalopathy 94 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330960 SCV002628373 uncertain significance Inborn genetic diseases 2019-03-12 criteria provided, single submitter clinical testing The p.K1389Q variant (also known as c.4165A>C), located in coding exon 32 of the CHD2 gene, results from an A to C substitution at nucleotide position 4165. The lysine at codon 1389 is replaced by glutamine, an amino acid with some 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.

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