ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1121-14_1121-10del

dbSNP: rs2122611723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073638 SCV002380425 likely benign Alagille syndrome due to a JAG1 point mutation 2021-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729074 SCV005336622 uncertain significance JAG1-related disorder 2024-06-25 no assertion criteria provided clinical testing The JAG1 c.1121-14_1121-10del5 variant is predicted to result in an intronic deletion. This variant is predicted to interfere with splicing at the consensus acceptor site based on splicing prediction programs (SpliceAI, Jaganathan K, et al. 2019. PubMed ID: 30661751). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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