ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) (rs749969667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000332337 SCV000329670 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing The c.4173dupA pathogenic variant in the CHD2 gene has been reported previously as a de novo pathogenic variant in two unrelated individuals with epilepsy, one with Lennox-Gastaut syndrome and the second with eyelid myoclonia with absences (Lund et al., 2014; Galizia et al., 2015). The c.4173dupA variant causes a frameshift starting with codon Glutamine 1392, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Gln1392ThrfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4173dupA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4173dupA as a pathogenic variant.
GeneReviews RCV000202632 SCV000257590 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000845032 SCV000986868 not provided CHD2-Related Disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 09/19/2018 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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