ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002776538 SCV003035367 likely pathogenic Snijders Blok-Campeau syndrome 2022-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064860 SCV004924887 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.3410G>A (p.R1137Q) alteration is located in exon 20 (coding exon 20) of the CHD3 gene. This alteration results from a G to A substitution at nucleotide position 3410, causing the arginine (R) at amino acid position 1137 to be replaced by a glutamine (Q). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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