ClinVar Miner

Submissions for variant NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) (rs1064795892)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484709 SCV000572115 likely pathogenic not provided 2018-11-29 criteria provided, single submitter clinical testing The R1025W variant in the CHD3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1025W variant is not observed in large population cohorts (Lek et al., 2016). The R1025W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R1025W as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000845094 SCV000986946 not provided CHD3-Related Disorder no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 12/04/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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