Submissions for variant NM_001271.4(CHD2):c.881G>T (p.Gly294Val)

gnomAD frequency: 0.00003  dbSNP: rs771390521

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413939	SCV000492357	uncertain significance	not specified	2016-12-12	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the CHD2 gene. The G294V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G294V variant is observed in 1/66,682 (0.002%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G294V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics	RCV000765248	SCV000896495	uncertain significance	Developmental and epileptic encephalopathy 94	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000765248	SCV001672902	likely benign	Developmental and epileptic encephalopathy 94	2024-06-04	criteria provided, single submitter	clinical testing