ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1942del (p.Val648fs)

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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 RCV004730085 SCV005338701 likely pathogenic JAG1-related disorder 2024-07-16 no assertion criteria provided clinical testing The JAG1 c.1942delG variant is predicted to result in a frameshift and premature protein termination (p.Val648Serfs*95). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in JAG1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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