ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.2000A>G (p.Glu667Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785179 SCV005397787 uncertain significance Snijders Blok-Campeau syndrome 2024-06-05 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (A>G) at position 2177 of the coding sequence of the CHD3 gene that results in a glutamic acid to glycine amino acid change at residue 726 of the chromodomain helicase DNA binding protein 3. This variant is absent from ClinVar and has not been observed in individuals affected by CHD3-related disorder in the published literature, to our knowledge. This variant is present in 1 of 1614190 alleles (0.0.00006%) in the gnomAD v4.1.0 population dataset. Multiple bioinformatic tools provide conflicting predictions concerning the impact of this amino acid change, and the Glu726 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been published, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: PM2, PP2

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