ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2015-1G>A

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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 RCV004728169 SCV005339833 likely pathogenic NOTCH1-related disorder 2024-05-08 no assertion criteria provided clinical testing The NOTCH1 c.2015-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in NOTCH1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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