ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs)

dbSNP: rs2150761158
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375987 SCV001572988 pathogenic CHARGE syndrome 2020-05-14 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001375987 SCV001976775 pathogenic CHARGE syndrome 2021-08-10 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Genomic Medicine Lab, University of California San Francisco RCV001375987 SCV002576368 pathogenic CHARGE syndrome criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399192 SCV004118777 pathogenic CHD7-related disorder 2022-08-30 criteria provided, single submitter clinical testing The CHD7 c.3422_3423delTG variant is predicted to result in a frameshift and premature protein termination (p.Val1141Glyfs*27). This variant has been previously observed and reported as de novo in a cohort of fetuses with unexplained nonimmune hydrops fetalis (Sparks et al. 2020. PubMed ID: 33027564). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CHD7 are expected to be pathogenic. This variant is interpreted as pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001375987 SCV005093818 pathogenic CHARGE syndrome 2024-08-05 criteria provided, single submitter clinical testing

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