ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)

dbSNP: rs1240488615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034430 SCV001197781 likely benign Developmental and epileptic encephalopathy 94 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337079 SCV002643695 uncertain significance Inborn genetic diseases 2018-11-12 criteria provided, single submitter clinical testing The p.R1725Q variant (also known as c.5174G>A), located in coding exon 38 of the CHD2 gene, results from a G to A substitution at nucleotide position 5174. The arginine at codon 1725 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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