ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs)

dbSNP: rs2487812403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003400427 SCV004103950 likely pathogenic CHD7-related disorder 2023-09-28 criteria provided, single submitter clinical testing The CHD7 c.3149_3156delinsGTC variant is predicted to result in a frameshift and premature protein termination (p.Gln1050Argfs*9). To our knowledge, this variant has not been reported in the literature or 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 likely pathogenic.

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